They described the diagnostic criteria for Wilson's syndrome as "imprecise" and "non-specific". [2] Florida State Medical Board members doubled down when they described Wilson's syndrome as a "phony syndrome" during a disciplinary witch-hunt [ according to whom? ... Denis (1992). Wilson's Temperature Syndrome - A Reversible Low Temperature Problem . ... Retrieved April 2, 2009 . ^ Gentry, Carol (February 8, 1992). "Doctor's syndrome a sham, board says" . St. Petersburg Times . ... Further reading [ edit ] American Thyroid Association statement on Wilson's syndrome Thomas, Mike (September 22, 1991). "The Wilson Syndrome" . Orlando Sentinel . Ricks, Delthia (February 8, 1992).
Hypertelorism should not be confused with telecanthus , in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged. [3] Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome , basal cell nevus syndrome , DiGeorge syndrome and Loeys–Dietz syndrome . Hypertelorism can also be seen in Apert syndrome , Autism spectrum disorder , craniofrontonasal dysplasia , Noonan syndrome , neurofibromatosis , [4] LEOPARD syndrome , Crouzon syndrome , Wolf–Hirschhorn syndrome , Andersen–Tawil syndrome , Waardenburg syndrome and cri du chat syndrome , along with piebaldism, prominent inner third of the eyebrows, irises of different color, spondyloepiphyseal dysplasia, mucopolysaccharide metabolism disorders ( Morquio syndrome and Hurler's syndrome ), deafness and also in hypothyroidism. ... Theories include too early ossification of the lower wings of the sphenoid , an increased space between the orbita, due to increasing width of the ethmoid sinuses , field defects during the development, a nasal capsule that fails to form, leading to a failure in normal medial orbital migration and also a disturbance in the formation of the cranial base, which can be seen in syndromes like Apert and Crouzon. [3] Treatment [ edit ] The craniofacial surgery to correct hypertelorism is usually done between five and eight years of age. ... Because hypertelorism is often associated with syndromes like Apert, hypertelorism is often seen in combination with midface dysplasia . ... Br J Plast Surgery 32: 339-342, 1976 ^ D Richardson and J K Thiruchelvam: Review Craniofacial surgery for orbital malformations http://www.nature.com/eye/journal/v20/n10/full/6702475a.html External links [ edit ] Classification D ICD - 10 : Q75.2 ICD - 9-CM : 376.41 756.0 OMIM : 145400 MeSH : D006972 DiseasesDB : 29328 Wikimedia Commons has media related to Hypertelorism . v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Idiopathic pneumonia syndrome Specialty Pulmonology Idiopathic pneumonia syndrome is a set of pneumonia -like symptoms that occur with no sign of infection in the lung. Idiopathic pneumonia syndrome is a serious condition that can occur after a stem cell transplant . ... Steroids are often used, though often without effect. [1] References [ edit ] ^ a b c d "Idiopathic pneumonia syndrome following hematopoietic stem cell transplantation" . doi : 10.3233/PIC-14098 . ... Cite journal requires |journal= ( help ) Idiopathic pneumonia syndrome entry in the public domain NCI Dictionary of Cancer Terms This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms" . v t e Pneumonia Infectious pneumonias Bacterial pneumonia Viral pneumonia Fungal pneumonia Parasitic pneumonia Atypical pneumonia Community-acquired pneumonia Healthcare-associated pneumonia Hospital-acquired pneumonia Ventilator-associated pneumonia Severe acute respiratory syndrome Pneumonias caused by infectious or noninfectious agents Aspiration pneumonia Lipid pneumonia Eosinophilic pneumonia Bronchiolitis obliterans organizing pneumonia Noninfectious pneumonia Chemical pneumonitis Idiopathic pneumonia syndrome This article about a medical condition affecting the respiratory system is a stub .
Achard syndrome Achard syndrome is inherited in an autosomal dominant manner Achard syndrome is a syndrome consisting of arachnodactyly , receding lower jaw, and joint laxity limited to the hands and feet. [1] Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome . [2] Contents 1 Symptoms 2 Diagnosis 3 Treatment 4 References 5 Further reading 6 External links Symptoms [ edit ] Presentation is the following: [ citation needed ] Small thumbs Joint laxity in hands Joint laxity in feet Brachycephaly Short mandibular rami Diagnosis [ edit ] This section is empty. ... Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris . 19 : 834–840. Duncan PA (1975). "The Achard syndrome". Birth Defects Original Article Series . 11 (6): 69–73. PMID 1201353 . PARISH JG (1960). "Skeletal syndromes associated with arachnodactyly" .
When Thursfield (1917-18) reviewed the literature on Marfan syndrome, he remarked that the skeletal picture in the cases described by Achard (1902) differed in that the skull was broad and brachycephalic with small mandible; although there was arachnodactyly, the body proportions were not altered and the patient was not excessively tall.
Banti's syndrome Banti's disease in a child aged seven years Specialty Hematology Banti's syndrome (also known as Banti's disease), named for is Guido Banti ., [1] is a chronic congestive enlargement of the spleen [2] resulting in premature destruction of the red blood cells by the spleen. ... The cause of such obstruction may be abnormalities present at birth (congenital) of certain veins, blood clots, or various underlying disorders causing inflammation and obstruction of veins (vascular obstruction) of the liver. Diagnosis [ edit ] Banti's syndrome can be diagnosed by clinical evaluation and specialized tests, particularly imaging techniques such as splenic venography and MRI. [3] Treatment [ edit ] This section is empty. ... ^ " Banti disease " at Dorland's Medical Dictionary ^ "Banti's Syndrome" . NORD (National Organization for Rare Disorders) . ... External links [ edit ] 1937 article in The Journal of Clinical Investigation v t e Lymphatic disease : organ and vessel diseases Thymus Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma Spleen Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splenomegaly Banti's syndrome Splenic infarction Splenic tumor Lymph node Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils see Template:Respiratory pathology Lymphatic vessels Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease
Orbital apex syndrome Other names Jacod syndrome Eye orbit anterior Specialty Neurology/ophthalmology Orbital apex syndrome , is a collection of cranial nerve deficits associated with a mass lesion near the apex of the orbit of the eye. This syndrome is a separate entity from Rochon–Duvigneaud syndrome , which occurs due to a lesion immediately anterior to the orbital apex. ... The optic nerve may eventually be involved, with resulting visual loss. Causes [ edit ] Jacod Syndrome is commonly associated with a tumor of the middle cranial fossa (near the apex of the orbit); but it can have several other causes. ... Yeh, S.; Foroozan, R. (2004). "Orbital apex syndrome". Current Opinion in Ophthalmology . 15 (6): 490–498. doi : 10.1097/01.icu.0000144387.12739.9c .
Snapping scapula syndrome Specialty Orthopedic Snapping Scapula Syndrome , also known as scapulocostal syndrome or scapulothoracic syndrome, is described by a “grating, grinding, popping or snapping sensation of the scapula onto the back side of the ribs or thoracic area of the spine” (Hauser). ... The most common surgery for snapping scapula requires the surgeon to “take out a small piece of the upper corner of the scapula nearest to the spine.” [ citation needed ] References [ edit ] "A Patient's Guide to Snapping Scapula Syndrome." eOrthopod, n.d. Web. 5 Dec 2011. Hauser, Ross. "Snapping Scapula Syndrome." Prolotherapy Information . N.p., n.d. ... External links [ edit ] Snapping scapula syndrome: diagnosis and management National Center for Biotechnology Information
A number sign (#) is used with this entry because of evidence that Joubert syndrome-18 (JBTS18) can be caused by homozygous mutation in the TCTN3 gene (613847) on chromosome 10q24. Mutation in the TCTN3 gene can also cause a form of orofaciodigital syndrome, OFD4 (258860). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Thomas et al. (2012) studied 2 sibs, aged 13 and 6 years, from a consanguineous Turkish family with Joubert syndrome. Both sibs had vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. ... Mapping Thomas et al. (2012) analyzed genomewide linkage scans in families with Joubert syndrome that were excluded by linkage to known Joubert syndrome loci and identified a Turkish family with 3 homozygous regions, the largest of which was on chromosome 10 in a region encompassing the TCTN3 gene. Molecular Genetics By direct sequencing of the TCTN3 in 2 Turkish sibs with Joubert syndrome, Thomas et al. (2012) identified homozygosity for the same missense mutation in both (G314R; 613847.0006).
A number sign (#) is used with this entry because Joubert syndrome-10 (JBTS10), which shows X-linked recessive inheritance, is caused by mutation in the OFD1 gene (300170). Description Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. ... For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Coene et al. (2009) reported a large kindred in which 8 males had severe to profound mental retardation and findings consistent with Joubert syndrome segregating in an X-linked recessive pattern. ... Field et al. (2012) reported 2 boys with Joubert syndrome-10 who were distantly related through the maternal line. ... Molecular Genetics By linkage analysis followed by candidate gene sequencing of a family with X-linked recessive Joubert syndrome, Coene et al. (2009) identified a hemizygous 7-bp deletion in exon 21 of the OFD1 gene (300170.0008).
Mutation in the C5ORF42 gene can also cause Joubert syndrome-17 (JBTS17; 614615), a disorder with overlapping features. Description Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014). ... Muenke et al. (1991) described detailed studies of a fetus with clinical findings overlapping this disorder, the hydrolethalus syndrome (236680), and the Pallister-Hall syndrome (PHS; 146510). ... Cleper et al. (1993) suggested that the findings overlapped with those of the Varadi syndrome and Opitz trigonocephaly syndrome (211750). Stephan et al. (1994) suggested that hypothalamic hamartoma is an occasional manifestation of Varadi syndrome. Toriello (1993) reviewed the clinical overlap observed with the 9 described types of OFD syndromes and with other entities such as Pallister-Hall syndrome and the hydrolethalus syndrome.
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
A number sign (#) is used with this entry because of evidence that Joubert syndrome-22 (JBTS22) is caused by homozygous mutation in the PDE6D gene (602676) on chromosome 2q37. ... For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Thomas et al. (2014) reported a consanguineous family in which 2 sibs had Joubert syndrome. ... Brain MRI confirmed the diagnosis of Joubert syndrome. Her brother had polydactyly, microphthalmia, and coloboma. ... Inheritance The transmission pattern of Joubert syndrome in the family reported by Thomas et al. (2014) was consistent with autosomal recessive inheritance. ... Screening the PDE6D gene in 940 patients with variable ciliopathy syndromes did not identify any mutations.
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome XV (OFD15) is caused by compound heterozygous mutation in the KIAA0753 gene (617112) on chromosome 17p13. ... Because of the association of oral defects, polydactyly, and MTS, the authors designated the clinical classification of this patient as orofaciodigital syndrome type VI (OFD6; see 277170). Molecular Genetics By exome sequencing in a female infant with orofaciodigital syndrome, Chevrier et al. (2016) identified compound heterozygosity for a nonsense mutation (K631X; 617112.0001) and a splice site mutation (617112.0002) in the KIAA0753 gene. ... Analysis of KIAA0753 in 32 patients diagnosed with either OFD6 or Joubert syndrome (see 213300) did not reveal any additional mutations.
Causes The precise cause of rumination syndrome isn't clear. But it appears to be caused by an increase in abdominal pressure. Rumination syndrome is frequently confused with bulimia nervosa, gastroesophageal reflux disease (GERD) and gastroparesis. Some people have rumination syndrome linked to a rectal evacuation disorder, in which poor coordination of pelvic floor muscles leads to chronic constipation. ... Complications Untreated, rumination syndrome can damage the tube between your mouth and stomach (esophagus). ... What you can do in the meantime Chewing gum may help ease some rumination syndrome symptoms for some people.
Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. .
Not to be confused with Rumination (psychology) . Rumination syndrome A postprandial manometry of a patient with rumination syndrome showing intra-abdominal pressure. ... Little comprehensive data regarding rumination syndrome in otherwise healthy individuals exists because most sufferers are private about their illness and are often misdiagnosed due to the number of symptoms and the clinical similarities between rumination syndrome and other disorders of the stomach and esophagus, such as gastroparesis and bulimia nervosa . ... Weight loss is often observed (42.2%) at an average loss of 9.6 kilograms, and is more common in cases where the disorder has gone undiagnosed for a longer period of time, [3] though this may be expected of the nutrition deficiencies that often accompany the disorder as a consequence of its symptoms. [3] Depression has also been linked with rumination syndrome, [5] though its effects on rumination syndrome are unknown. [2] Acid erosion of the teeth can be a feature of rumination, [6] as can halitosis (bad breath). [7] Causes [ edit ] The cause of rumination syndrome is unknown. ... Patients often describe a feeling similar to the onset of a belch preceding rumination. [2] Diagnosis [ edit ] Rumination syndrome is diagnosed based on a complete history of the individual. ... Adults and adolescents with rumination syndrome are generally well aware of their gradually increasing malnutrition, but are unable to control the reflex.
A number sign (#) is used with this entry because of evidence that Ayme-Gripp syndrome (AYGRP) is caused by heterozygous mutation in the MAF gene (177075) on chromosome 16q23. ... The appearance of the eyes was somewhat suggestive of Down syndrome. The philtrum was long, broad, and smooth and the face was generally flat. ... They suggested that their patient had the same disorder (Fine-Lubinsky syndrome; 601353) as that reported by Fine and Lubinsky (1983). ... The phenotype was distinct from that seen in Jacobsen syndrome (147791). Microarray analysis was normal in the girl. ... Niceta et al. (2015) noted partial overlap between the clinical presentation of this syndrome and that of Fine-Lubinsky syndrome, and suggested the designation 'Ayme-Gripp syndrome' for the MAF-associated phenotype.
Schoner et al. (2008) reported a female fetus at 24 weeks' gestation with Fine-Lubinsky syndrome. Prenatal ultrasound at 22 weeks' gestation showed polyhydramnios, growth retardation, and dysmorphic features including microcephaly, brachycephaly, extremely flat face, cataract, small nose, long philtrum, and microretrognathia, as well as rocker-bottom feet with syndactyly of the toes. ... Schoner et al. (2008) tabulated the features of this patient as well as those of 6 previously reported patients with Fine-Lubinsky syndrome. Corona-Rivera et al. (2009) reported a patient with Fine-Lubinsky syndrome and reviewed the clinical features of previously published patients. ... Inheritance Corona-Rivera et al. (2009) noted that all 9 reported patients with Fine-Lubinsky syndrome were sporadic cases born of healthy parents, with reportedly normal karyotypes.
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth).
Not to be confused with Potter sequence . Doege–Potter syndrome The structure of IGF-2, responsible for the hypoglycemia associated with Doege–Potter syndrome Specialty Oncology Doege–Potter syndrome (DPS) is a paraneoplastic syndrome [1] in which hypoglycemia is associated with solitary fibrous tumors . ... "Solitary fibrous tumor of the pleura with associated hypoglycemia: Doege–Potter syndrome: a case report". J Thorac Oncol . 1 (6): 588–90. doi : 10.1097/01243894-200607000-00016 . ... "Solitary fibrous tumor of the pleura with hypoglycemia: the Doege–Potter syndrome". J Ky Med Assoc . 90 (11): 557–60. ... "Solitary fibrous tumor associated with hypoglycemia: an example of the Doege–Potter syndrome" . J. Thorac. Cardiovasc. Surg . 119 (1): 185–7. doi : 10.1016/S0022-5223(00)70242-X . ... PMID 7260861 . ^ a b Zafar H, Takimoto CH, Weiss G (2003). "Doege–Potter syndrome: hypoglycemia associated with malignant solitary fibrous tumor".
Potentially lethal blockage of lung vasculature in sickle cell anaemia Acute chest syndrome Specialty Pulmonology The acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia . ... Acute chest syndrome is an indication for exchange transfusion . ... "Sickle-Cell Disease: The Acute Chest Syndrome" . ^ Sickle cell disease (SCD) . ... "Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease". ... PMID 25086371 . ^ " acute chest syndrome " at Dorland's Medical Dictionary ^ Kumar, Abbas, Fausto.
Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome.
13q deletion syndrome 13q deletion syndrome is inherited in an autosomal dominant manner 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13 . ... History [ edit ] 13q deletion syndrome was first described in 1963 and fully characterized in 1971. [3] There has not been much research done in the past with 13q deletion syndrome but more and more research is surfacing every year about the rare disease. ... T. (2017). "Chromosome 13q deletion syndrome involving 13q31-qter: A case report" . ... Retrieved 2015-07-22 . ^ a b c d e f g h i j k l m n "13q deletion syndrome" . www.socialstyrelsen.se . Archived from the original on 2019-04-08 . ... "First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness.
Partial monosomy 13q Chromosome 13 which is involved in this condition Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature. [1] Contents 1 Symptoms 2 Diagnosis 3 Treatment 4 References Symptoms [ edit ] Symptoms vary from case to case, and may correlate to how much of the chromosome is missing. Symptoms that are frequently observed with the condition include: Low birth weight Malformations of the head Eye abnormalities Defects of the hands and feet, polydactyly Reproductive abnormalities (males) Psychological and motor retardation Diagnosis [ edit ] This section is empty. You can help by adding to it . ( December 2017 ) Treatment [ edit ] This section is empty.
The visual prognosis for ocular ischemic syndrome varies from usually poor to fair, depending on speed and effectiveness of the intervention. ... "Ocular ischemic syndrome". Chang Gung Medical Journal . 24 (8): 483–91. ... PMID 16340491 . ^ Koz OG, Ates A, Numan Alp M, Gultan E, Karaaslan Y, Kural G (January 2007). "Bilateral ocular ischemic syndrome as an initial manifestation of Takayasu's arteritis associated with carotid steal syndrome". ... "Giant cell arteritis in the ocular ischemic syndrome". American Journal of Ophthalmology . 113 (6): 702–5. doi : 10.1016/s0002-9394(14)74798-1 . PMID 1598963 . ^ Munch IC, Larsen M (Aug 2005). "[The ocular ischemic syndrome.]". Ugeskrift for Lægerer . 167 (35): 3269–73.
Achard–Thiers syndrome Specialty Endocrinology Achard–Thiers syndrome (also known as diabetic-bearded woman syndrome) is a rare disorder mainly occurring in postmenopausal women. It is characterized by type II diabetes mellitus and signs related to the overproduction of androgens . [1] The disease is named for Emile Achard and Joseph Thiers . [2] Contents 1 Presentation 2 Diagnosis 3 Treatment 4 References 5 External links Presentation [ edit ] Achard–Thiers syndrome affects mostly postmenopausal women and comprises diabetes mellitus , deep voice, hirsutism or hypertrichosis , clitoral hypertrophy and adrenal cortical hyperplasia or adenoma . ... ISBN 1-85070-333-7 Who Named It? Specific ^ "Achard Thiers Syndrome" . NORD (National Organization for Rare Disorders) . Retrieved 2020-07-30 . ^ Pal, Lubna (2013). Polycystic Ovary Syndrome: Current and Emerging Concepts .
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. Epidemiology Nasopalpebral lipoma-coloboma-telecanthus syndrome (NPLCS) is a very rare syndrome. ... Differential diagnosis The main differential diagnoses include congenital infiltrating lipomatosis of the face, oculocerebrocutaneous syndrome, and conditions with eyelid coloboma and hypertelorism such as frontonasal dysplasia, craniofrontonasal syndrome, and oculoauriculofrontonasal syndrome.
Description Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011). ... One affected male in the second generation had affected children by each of 2 wives and only normal children by a third. This syndrome was validated by the Turkish family reported by Akarsu and Sayli (1991) in which 7 members in 4 generations were affected. ... The appearance as pictured from both the Venezuelan and the Turkish family was striking. The syndrome is easily distinguished from frontonasal dysplasia (136760) and from craniofrontonasal dysplasia (304110), which it only superficially resembles. Bock-Kunz et al. (2000) described the ophthalmic manifestations and clinical course of a newborn with nasopalpebral lipoma-coloboma syndrome. In addition to the ocular and maxillofacial findings described in the existing literature, the patient had small amplitude jerk nystagmus with a latent component, high hyperopic astigmatism, and variable, intermittent exotropia which resolved with part-time occlusion of the preferred eye. ... Suresh et al. (2011) described a sporadic case of nasopalpebral lipoma-coloboma syndrome in a 16-year-old Indian girl, born of nonconsanguineous parents.
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. ... Clinical description Zlotogora-Ogur syndrome is a congenital disorder characterized by sparse and twisted hair ( pili torti ) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults), facial dysmophism (protruding and malformed ears, micrognathia, bilateral cleft lip and palate), cutaneous syndactyly (fingers and toes) and transverse crease on the palms. ... Additional features including intellectual disability, deafness, hypoplastic lacrimal puncta, nipple anomalies, genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal), and lumbar lordosis may be observed. Zlotogora-Ogur syndrome and Margarita Island ectodermal dysplasia are the same entity. Etiology Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Although the mechanism underlying the physiopathology of Zlotogora-Ogur syndrome is still unknown, it has been proposed that nectin-1 is a cell-cell adhesion molecule that is preferentially expressed in keratinocytes and that mutations in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion.