Charcot-Marie-Tooth disease type 4C (CMT4C; 601596) is a more severe neuropathy caused by homozygous or compound heterozygous mutation in the SH3TC2 gene. See also carpal tunnel syndrome (115430). Clinical Features Lupski et al. (2010) reported a 3-generation family with variable severity of a peripheral neuropathy. ... Three additional family members who were heterozygous for the R954X mutation, resulting in loss of function, had a subtle mild mononeuropathy of the median nerve (MNMN) consistent with carpal tunnel syndrome. This involvement of the median nerve was also seen in the patients with CMT4C. Lupski et al. (2010) concluded that haploinsufficiency of SH3TC2 may confer susceptibility to carpal tunnel syndrome. Two additional family members who were heterozygous for the Y169H mutation had an apparently autosomal dominant patchy axonal polyneuropathy, as shown by electrophysiologic studies. ... INHERITANCE - Autosomal dominant NEUROLOGIC Peripheral Nervous System - Mononeuropathy of the median nerve - Carpal tunnel syndrome - More widespread axonal polyneuropathy may occur - Patchy axonal neuropathy MISCELLANEOUS - Allelic disorder to autosomal recessive Charcot-Marie-Tooth disease type 4C ( 601596 ) MOLECULAR BASIS - Caused by mutation in the SH3 domain and tetratricopeptide repeat domain 2 gene (SH3TC2, 608206.0005 ) ▲ Close
PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.
Clinical Features Hoefs et al. (2008) reported a boy, born to first-cousin Turkish parents, with mitochondrial complex I deficiency manifesting as Leigh syndrome (see 256000). The boy had hypertrophic cardiomyopathy and developmental delay from birth, and brain MRI showed cerebral atrophy and hypoplasia of the corpus callosum. ... MRI just before death showed demyelinization of corticospinal tracts and subacute necrotizing encephalomyelopathy consistent with Leigh syndrome. Molecular Genetics In a Turkish boy, born to first-cousin parents, with mitochondrial complex I deficiency manifesting as Leigh syndrome, Hoefs et al. (2008) identified a homozygous splice site mutation in the NDUFA2 gene (602137.0001). INHERITANCE - Autosomal recessive CARDIOVASCULAR Heart - Hypertrophic cardiomyopathy RESPIRATORY - Apnea, episodic NEUROLOGIC Central Nervous System - Global developmental delay - Seizures - Coma after infection - Cerebral atrophy seen on brain imaging - Hypoplasia of the corpus callosum - White matter abnormalities consistent with Leigh syndrome - Demyelinization of corticospinal tracts - Necrotizing encephalomyelopathy METABOLIC FEATURES - Metabolic acidosis LABORATORY ABNORMALITIES - Mitochondrial complex I deficiency in various tissues MISCELLANEOUS - Onset at birth - Death in infancy - One patient, born of consanguineous Turkish parents, has been reported (last curated January 2019) MOLECULAR BASIS - Caused by mutation in the NADH-ubiquinone oxidoreductase subunit A2 gene (NDUFA2, 602137.0001 ) ▲ Close
If the mother's copy of the chromosomal region 15q11-13 is deleted, Angelman syndrome (AS) can results. The sister syndrome Prader-Willi syndrome (PWS) can result if the father's copy of the chromosomal region 15q11-13 is deleted. [2] The smallest observed region that can result in these syndromes when deleted is therefore called the PWS/AS critical region .
Supravalvular aortic stenosis Specialty Medical genetics Causes Williams syndrome Diagnostic method echocardiography or MRI Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is least common type of aortic stenosis . It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome . The diagnosis can be made by echocardiography or MRI . ... Genetics [ edit ] Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. [1] Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome , where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. [2] Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis [1] References [ edit ] ^ a b Tassabehji, May, and Zsolt Urban. ... "Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients." American journal of human genetics 57.1 (1995): 49.
If it involves the first metatarsal, the condition is known as Morton's syndrome . [1] Treatment is via a number of differing surgical procedures. [1] Contents 1 Diagnosis 1.1 Differential diagnosis 2 Treatment 3 Epidemiology 4 References Diagnosis [ edit ] Differential diagnosis [ edit ] Congenital causes include: Aarskog syndrome , Turner syndrome , Albright's hereditary osteodystrophy , maternal ingestion of thalidomide during pregnancy and Apert syndrome .
Telangiectasias, aside from presenting in many other conditions, are one of the features of the acronymically named CREST syndrome , a form of systemic scleroderma . The syndrome recognises the significantly co-presenting symptoms of calcinosis , Raynaud's phenomenon , esophageal dysmotility , sclerodactyly and telangiectasia. ... Genetic [ edit ] Goldman states that "numerous inherited or congenital conditions display cutaneous telangiectasia". [2] These include: Bloom syndrome (homozygous null mutation in BLM DNA repair enzyme . similar mechanism and etiology to ataxia telangiectasia) Naevus flammeus (port-wine stain) Klippel–Trenaunay syndrome Maffucci syndrome (multiple enchondromas and hemangiomas ) Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) Ataxia–telangiectasia Sturge–Weber syndrome , a nevus formation in the skin supplied by the trigeminal nerve and associated with facial port-wine stains, glaucoma , meningeal angiomas and intellectual disabilities Hypotrichosis–lymphedema–telangiectasia syndrome , caused by mutation in transcription factor SOX18 [3] Venous hypertension [ edit ] In the past, it was believed that leg varicose veins or telangectasia were caused by high venous pressure or "venous hypertension". ... Radiation exposure such as that experienced during radiotherapy for the treatment of cancer, e.g., radiation proctitis Chemotherapy Carcinoid syndrome Limited systemic sclerosis/scleroderma (a Scleroderma sub-type) Chronic treatment with topical corticosteroids may lead to telangiectasia. [10] Spider angiomas are a radial array of tiny arterioles that commonly occur in pregnant women and in patients with hepatic cirrhosis and are associated with palmar erythema . In men, they are related to high estrogen levels secondary to liver disease . Tempi syndrome Tobacco smoking [9] Treatment [ edit ] Before any treatment of leg telangectasia (spider veins) is considered, it is essential to have duplex ultrasonography , the test that has replaced Doppler ultrasound.
Cases concerning memory distrust syndrome have led to documented false confessions in court cases. ... This further suggests that memory distrust syndrome solely alters the individual's currently retrievable memories, and not randomized information. ... Memory distrust syndrome (MDS) is the doubt of one's own memory surrounding the content and context of events. ... Diagnostic tests [ edit ] Since the cause of memory distrust syndrome is unknown, there is no ultimate test to determine diagnosis. ... The Construction of False Memory Syndrome: A Transactional Model. Psychological Inquiry. 1997.
Deformity of the finger or toe nails associated with a number of diseases Clubbing Other names Drumstick fingers, Hippocratic fingers, digital clubbing, watch-glass nails [1] Clubbing Specialty Pulmonology Nail clubbing , also known as digital clubbing or clubbing , is a deformity of the finger or toe nails associated with a number of diseases, mostly of the heart and lungs . [2] [3] When it occurs together with joint effusions , joint pains, and abnormal skin and bone growth it is known as hypertrophic osteoarthropathy . [4] Clubbing is associated with lung cancer , lung infections, interstitial lung disease , cystic fibrosis , or cardiovascular disease . [5] Clubbing may also run in families, [5] and occur unassociated with other medical problems. [6] [7] The incidence of clubbing is unknown; it was present in about 1% of people admitted to an internal medicine unit of a hospital. [5] Clubbing has been recognized as a sign of disease since the time of Hippocrates . [5] Contents 1 Causes 1.1 Hypertrophic pulmonary osteoarthropathy 1.2 Primary hypertrophic osteoarthropathy 2 Pathophysiology 3 Diagnosis 3.1 Stages 4 Epidemiology 5 History 6 See also 7 References Causes [ edit ] Clubbing is associated with Lung disease: Lung cancer , mainly non-small-cell (54% of all cases), not seen frequently in small-cell lung cancer (< 5% of cases) [8] Interstitial lung disease most commonly idiopathic pulmonary fibrosis Complicated tuberculosis Suppurative lung disease: lung abscess , empyema , bronchiectasis , cystic fibrosis Mesothelioma of the pleura Arteriovenous fistula or malformation Sarcoidosis Heart disease: Any disease featuring chronic hypoxia Congenital cyanotic heart disease (most common cardiac cause) Subacute bacterial endocarditis Atrial myxoma (benign tumor) Tetralogy of Fallot Gastrointestinal and hepatobiliary: Malabsorption Crohn's disease and ulcerative colitis Cirrhosis , especially in primary biliary cholangitis [9] Hepatopulmonary syndrome , a complication of cirrhosis [10] Others: Graves' disease (autoimmune hyperthyroidism) – in this case it is known as thyroid acropachy [11] Familial and hereditary clubbing and "pseudoclubbing" (people of African descent often have what appears to be clubbing) Vascular anomalies of the affected arm such as an axillary artery aneurysm (in unilateral clubbing) Nail clubbing is not specific to chronic obstructive pulmonary disease (COPD). Therefore, in patients with COPD and significant degrees of clubbing, a search for signs of bronchogenic carcinoma (or other causes of clubbing) might still be indicated. [12] A congenital form has also been recognized. [13] Hypertrophic pulmonary osteoarthropathy [ edit ] Main article: Periosteal reaction Bone scan of a patient with HPOA A special form of clubbing is hypertrophic pulmonary osteoarthropathy (HPOA), known in continental Europe as Pierre Marie-Bamberger syndrome. This is the combination of clubbing and thickening of periosteum (connective tissue lining of the bones) and synovium (lining of joints), and is often initially diagnosed as arthritis . ... It is known eponymously as the Touraine–Solente–Golé syndrome. This condition has been linked to mutations in the gene on the fourth chromosome (4q33-q34) coding for the enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD); this leads to decreased breakdown of prostaglandin E2 and elevated levels of this substance. [14] Pathophysiology [ edit ] The exact cause for sporadic clubbing is unknown. ... PMID 7227854 . ^ Naeije R (March 2003). "Hepatopulmonary syndrome and portopulmonary hypertension". ... Classification D ICD - 10 : R68.3 ICD - 9-CM : 781.5 v t e Disorders of skin appendages Nail thickness: Onychogryphosis Onychauxis color: Beau's lines Yellow nail syndrome Leukonychia Azure lunula shape: Koilonychia Nail clubbing behavior: Onychotillomania Onychophagia other: Ingrown nail Anonychia ungrouped: Paronychia Acute Chronic Chevron nail Congenital onychodysplasia of the index fingers Green nails Half and half nails Hangnail Hapalonychia Hook nail Ingrown nail Lichen planus of the nails Longitudinal erythronychia Malalignment of the nail plate Median nail dystrophy Mees' lines Melanonychia Muehrcke's lines Nail–patella syndrome Onychoatrophy Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychophosis Onychoptosis defluvium Onychorrhexis Onychoschizia Platonychia Pincer nails Plummer's nail Psoriatic nails Pterygium inversum unguis Pterygium unguis Purpura of the nail bed Racquet nail Red lunulae Shell nail syndrome Splinter hemorrhage Spotted lunulae Staining of the nail plate Stippled nails Subungual hematoma Terry's nails Twenty-nail dystrophy Hair Hair loss / Baldness noncicatricial alopecia : Alopecia areata totalis universalis Ophiasis Androgenic alopecia (male-pattern baldness) Hypotrichosis Telogen effluvium Traction alopecia Lichen planopilaris Trichorrhexis nodosa Alopecia neoplastica Anagen effluvium Alopecia mucinosa cicatricial alopecia : Pseudopelade of Brocq Central centrifugal cicatricial alopecia Pressure alopecia Traumatic alopecia Tumor alopecia Hot comb alopecia Perifolliculitis capitis abscedens et suffodiens Graham-Little syndrome Folliculitis decalvans ungrouped: Triangular alopecia Frontal fibrosing alopecia Marie Unna hereditary hypotrichosis Hypertrichosis Hirsutism Acquired localised generalised patterned Congenital generalised localised X-linked Prepubertal Acneiform eruption Acne Acne vulgaris Acne conglobata Acne miliaris necrotica Tropical acne Infantile acne / Neonatal acne Excoriated acne Acne fulminans Acne medicamentosa (e.g., steroid acne ) Halogen acne Iododerma Bromoderma Chloracne Oil acne Tar acne Acne cosmetica Occupational acne Acne aestivalis Acne keloidalis nuchae Acne mechanica Acne with facial edema Pomade acne Acne necrotica Blackhead Lupus miliaris disseminatus faciei Rosacea Perioral dermatitis Granulomatous perioral dermatitis Phymatous rosacea Rhinophyma Blepharophyma Gnathophyma Metophyma Otophyma Papulopustular rosacea Lupoid rosacea Erythrotelangiectatic rosacea Glandular rosacea Gram-negative rosacea Steroid rosacea Ocular rosacea Persistent edema of rosacea Rosacea conglobata variants Periorificial dermatitis Pyoderma faciale Ungrouped Granulomatous facial dermatitis Idiopathic facial aseptic granuloma Periorbital dermatitis SAPHO syndrome Follicular cysts " Sebaceous cyst " Epidermoid cyst Trichilemmal cyst Steatocystoma simplex multiplex Milia Inflammation Folliculitis Folliculitis nares perforans Tufted folliculitis Pseudofolliculitis barbae Hidradenitis Hidradenitis suppurativa Recurrent palmoplantar hidradenitis Neutrophilic eccrine hidradenitis Ungrouped Acrokeratosis paraneoplastica of Bazex Acroosteolysis Bubble hair deformity Disseminate and recurrent infundibulofolliculitis Erosive pustular dermatitis of the scalp Erythromelanosis follicularis faciei et colli Hair casts Hair follicle nevus Intermittent hair–follicle dystrophy Keratosis pilaris atropicans Kinking hair Koenen's tumor Lichen planopilaris Lichen spinulosus Loose anagen syndrome Menkes kinky hair syndrome Monilethrix Parakeratosis pustulosa Pili ( Pili annulati Pili bifurcati Pili multigemini Pili pseudoannulati Pili torti ) Pityriasis amiantacea Plica neuropathica Poliosis Rubinstein–Taybi syndrome Setleis syndrome Traumatic anserine folliculosis Trichomegaly Trichomycosis axillaris Trichorrhexis ( Trichorrhexis invaginata Trichorrhexis nodosa ) Trichostasis spinulosa Uncombable hair syndrome Wooly hair nevus Sweat glands Eccrine Miliaria Colloid milium Miliaria crystalline Miliaria profunda Miliaria pustulosa Miliaria rubra Occlusion miliaria Postmiliarial hypohidrosis Granulosis rubra nasi Ross’ syndrome Anhidrosis Hyperhidrosis Generalized Gustatory Palmoplantar Apocrine Body odor Chromhidrosis Fox–Fordyce disease Sebaceous Sebaceous hyperplasia v t e Symptoms and signs relating to the respiratory system Auscultation Stethoscope Respiratory sounds Stridor Wheeze Crackles Rhonchi Stertor Squawk Pleural friction rub Fremitus Bronchophony Terminal secretions Elicited findings Percussion Pectoriloquy Whispered pectoriloquy Egophony Breathing Rate Apnea Prematurity Dyspnea Hyperventilation Hypoventilation Hyperpnea Tachypnea Hypopnea Bradypnea Pattern Agonal respiration Biot's respiration Cheyne–Stokes respiration Kussmaul breathing Ataxic respiration Other Respiratory distress Respiratory arrest Orthopnea / Platypnea Trepopnea Aerophagia Asphyxia Breath holding Mouth breathing Snoring Other Chest pain In children Precordial catch syndrome Pleurisy Nail clubbing Cyanosis Cough Sputum Hemoptysis Epistaxis Silhouette sign Post-nasal drip Hiccup COPD Hoover's sign asthma Curschmann's spirals Charcot–Leyden crystals chronic bronchitis Reid index sarcoidosis Kveim test pulmonary embolism Hampton hump Westermark sign pulmonary edema Kerley lines Hamman's sign Golden S sign
CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome . These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
This would be an example of secondary adrenal insufficiency syndrome. [ citation needed ] Causes of adrenal insufficiency can be categorized by the mechanism through which they cause the adrenal glands to produce insufficient cortisol. ... These include mutations to the SF1 transcription factor , congenital adrenal hypoplasia due to DAX-1 gene mutations and mutations to the ACTH receptor gene (or related genes, such as in the Triple A or Allgrove syndrome). DAX-1 mutations may cluster in a syndrome with glycerol kinase deficiency with a number of other symptoms when DAX-1 is deleted together with a number of other genes. [16] Impaired steroidogenesis [ edit ] To form cortisol, the adrenal gland requires cholesterol , which is then converted biochemically into steroid hormones. ... Autoimmune destruction of the adrenal cortex is caused by an immune reaction against the enzyme 21-hydroxylase (a phenomenon first described in 1992). [20] This may be isolated or in the context of autoimmune polyendocrine syndrome (APS type 1 or 2), in which other hormone-producing organs, such as the thyroid and pancreas , may also be affected. [21] Adrenal destruction is also a feature of adrenoleukodystrophy (ALD), and when the adrenal glands are involved in metastasis (seeding of cancer cells from elsewhere in the body, especially lung ), hemorrhage (e.g. in Waterhouse–Friderichsen syndrome or antiphospholipid syndrome ), particular infections ( tuberculosis , histoplasmosis , coccidioidomycosis ), or the deposition of abnormal protein in amyloidosis . [22] Pathophysiology [ edit ] Hyponatremia can be caused by glucocorticoid deficiency. ... "Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I" . Journal of Internal Medicine . 265 (5): 514–29. doi : 10.1111/j.1365-2796.2009.02090.x . ... External links [ edit ] Classification D ICD - 10 : E27.1 - E27.4 ICD - 9-CM : 255.4 MeSH : D000309 External resources eMedicine : emerg/16 v t e Hypothalamic disease Gonadotropin Kallmann syndrome Adiposogenital dystrophy CRH Tertiary adrenal insufficiency Vasopressin Neurogenic diabetes insipidus General Hypothalamic hamartoma v t e Shock Distributive Septic shock Neurogenic shock Anaphylactic shock Toxic shock syndrome Obstructive Abdominal compartment syndrome Low volume Hemorrhage Hypovolemia Osmotic shock Other Spinal shock Cryptic shock Vasodilatory shock
Find sources: "Minor's disease" – news · newspapers · books · scholar · JSTOR ( November 2018 ) Minor's disease Specialty Neurology Minor's disease , a syndrome involving the sudden onset of back pain and paralysis caused by haemorrhage into the spinal cord substance, was named after the Russian neurologist, Lazar Salomowitch Minor (1855–1942). The term " Minor's syndrome " is now only rarely used in connection with his work and is increasingly being used, both inside and outside the medical profession, to refer to superior canal dehiscence syndrome (SCDS), first described in 1998 by Dr.
There are 4 forms of familial periodic paralysis: hypokalemic , hyperkalemic , thyrotoxic , and Andersen-Tawil syndrome . In the hypokalemic form, the paralysis is caused by low levels of potassium. ... In the thyrotoxic form, the paralysis is caused by low levels of potassium in the blood and an overactive thyroid gland ( hyperthyroidism ). In Andersen-Tawil syndrome, potassium levels can be high, low, or normal. ... Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. Treatment is focused on correcting the levels of potassium in the blood and preventing episodes with lifestyle changes.
This means people with both hyperkalemic periodic paralysis and paramyotonia congenita can have attacks with fluctuations of potassium up or down. Andersen-Tawil syndrome ( Online Mendelian Inheritance in Man (OMIM): 170390 ), a form of periodic paralysis that includes significant heart rhythm problems, fainting and risk of sudden death. ... However, treatment should be tailored to the particular type of periodic paralysis. [4] [5] [6] Treatment of periodic paralysis in Andersen-Tawil syndrome is similar to that for other types. ... "Novel de novo Mutation in the KCNJ2 gene in a Patient with Andersen-Tawil Syndrome". Pediatric Neurology . 41 (6): 464–466. doi : 10.1016/j.pediatrneurol.2009.07.010 .
In addition to the symptoms of Caroli disease, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein). Although the underlying cause of Caroli disease and Caroli syndrome are poorly understood, they are thought to be genetic conditions. Caroli disease generally occurs sporadically in people with no family history of the condition; however, rare reports exist of autosomal dominant inheritance in association with autosomal dominant polycystic kidney disease . Caroli syndrome is generally inherited in an autosomal recessive manner and is frequently seen in association with autosomal recessive polycystic kidney disease .
Congenital polycystic dilatation of intrahepatic bile ducts was first described by Caroli et al. (1958). The condition is characterized by polycystic segmental dilatation of the intrahepatic bile ducts and a marked predisposition to cholangitis and liver abscess. As indicated in the discussion of infantile polycystic kidney disease (263200), involvement of the liver compatible with Caroli disease is seen in association with that of kidney disease and possibly also with the adult form of polycystic kidney disease. It is possible that isolated Caroli disease occurs as a genetic entity in some families. Tsuchida et al. (1995) reported a family in which a 5-year-old girl was found to have Caroli disease and investigated for recurrent episodes of fever, epigastric pain, and vomiting with associated hepatomegaly.
A number sign (#) is used with this entry because of evidence that Sweeney-Cox syndrome (SWCOS) is caused by heterozygous mutation in the TWIST1 gene (601622) on chromosome 7p21. Description Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017). ... The authors designated the disorder 'Sweeney-Cox syndrome,' based on surnames of the clinicians who first recognized the common features present in their patients. Molecular Genetics Kim et al. (2017) restudied a boy with Sweeney-Cox syndrome who had previously been reported by Miller et al. (2017) as 'family 18' and in whom a missense mutation in the TWIST1 gene had been identified (E117V; 601622.0015).
Ardinger et al. (1999) described a 3-generation family with Hunter-MacDonald syndrome. The proband was a 7-year-old girl with proportionate short stature. ... The father had short stature (adult height 160 cm), leading Armstrong et al. (2008) to conclude that the father also had Hunter-MacDonald syndrome. Armstrong et al. (2008) also reevaluated the then 42-year-old mother of the girl described by Ardinger et al. (1999). ... Armstrong et al. (2008) concluded that predisposition to meningioma is a cardinal feature of Hunter-MacDonald syndrome. Inheritance The transmission pattern of Hunter-MacDonald syndrome in the family reported by Ardinger et al. (1999) was consistent with autosomal dominant inheritance.
SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). ... There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500). ... Zhang et al. (2016) reported a nonconsanguineous family in which features consistent with short-rib polydactyly syndrome were identified prenatally in 2 fetuses. ... By exome sequencing of DNA from 1 of 2 fetuses from a nonconsanguineous family with features of short-rib polydactyly syndrome, Zhang et al. (2016) identified compound heterozygosity for a 1-bp deletion (617094.0002) and a missense mutation (A199T; 617094.0003) in the IFT52 gene.
Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. ... Both sibs had multiple dental anomalies. A diagnosis of Sensenbrenner syndrome was made based on the combination of clinical findings in both sibs. Molecular Genetics In a sister and brother with clinical findings compatible with Sensenbrenner syndrome, from a Norwegian family in which haplotype analysis had excluded the 3 genes previously found to be mutated in Sensenbrenner syndrome, Bredrup et al. (2011) performed exome sequencing and identified variations in 7 candidate genes.
Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010). ... In a review, Lin et al. (2013) found that of 14 of 39 patients with Sensenbrenner syndrome who had a molecular diagnosis, 6 (43%) had mutations in WDR35, 4 in IFT122, 2 in WDR19, and 2 in IFT43. ... Zaffanello et al. (2006) reported a 4-year-old Italian boy with Sensenbrenner syndrome. He had rhizomelic shortening, dolichocephaly, epicanthal folds, narrow thorax, and dental anomalies. ... Zaffanello et al. (2006) suggested that Sensenbrenner syndrome is a member of the family of congenital hepatorenal fibrocystic syndromes. ... In a review of the clinical features of 2 new patients and 37 previously reported patients with Sensenbrenner syndrome, Lin et al. (2013) found that the most frequent manifestations were a characteristic facial appearance, sagittal craniosynostosis, brachydactyly, narrow thorax, short long bones, joint laxity, abnormalities of the hair and teeth, and renal disease.
Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. ... Clinical Features Gilissen et al. (2010) reported 2 unrelated Dutch boys with a similar phenotype that was reminiscent of Sensenbrenner syndrome. Both had short stature (less than 2.5 SD below the average), dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, and brachydactyly. ... Bacino et al. (2012) studied a Mexican family in which 4 sibs exhibited features that were characteristic of Sensenbrenner syndrome but also overlapped those of short-rib polydactyly syndromes (see SRTD7, 614091). ... Walczak-Sztulpa et al. (2017) reported 2 Polish sisters with Sensenbrenner syndrome. The proband was 9 years old, and her older sister had died at age 4 months of respiratory, hepatic, and renal insufficiency. ... In a 9-year-old Polish girl with Sensenbrenner syndrome, Walczak-Sztulpa et al. (2017) sequenced the candidate genes IFT122 and WDR35 and identified compound heterozygosity for mutations in the WDR35 gene: L641X (613602.0015) and D841V(613602.0016).
Within the ciliopathies, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Ellis-van Creveld syndrome, and the short rib-polydactyly syndromes resemble cranioectodermal dysplasia the most. ... Other ciliopathies that clinically overlap with cranioectodermal dysplasia include isolated nephronophthisis, isolated retinal dystrophy, Caroli disease, Senior-Løken syndrome, Joubert syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome [Huber & Cormier-Daire 2012]. ... The frequency of heart defects in EVC syndrome is greater than in CED (as indicated in Table 1). EVC syndrome is inherited in an autosomal recessive manner. ... The five short rib-polydactyly syndromes are: SRPS I: Saldino-Noonan syndrome (OMIM 613091) SRPS II: Majewski syndrome (OMIM 263520) SRPS III: Verma-Naumoff syndrome (OMIM 613091) SRPS IV: Beemer Langer syndrome (OMIM 269860) SRPS V: (OMIM 614091) [Elçioglu & Hall 2002, Mill et al 2011].
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing ) and an elongated head (dolichocephaly ) due to abnormal fusion of certain skull bones (sagittal craniosynostosis).
Differential diagnosis Differential diagnosis of CED includes Jeune syndrome (see this term) from which it can be distinguished by the presence of craniosynostosis, and skin and dental dysplasia. CED also overlaps with Ellis van Creveld syndrome (see this term) which also shows ectodermal defects and narrow thorax.
Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. ... The 7-year-old sister, who lacked the typical craniofacial features of Sensenbrenner syndrome, had bilateral 2-3-4 toe syndactyly, and brachydactyly with webbing of fingers and short, broad nails.