Childhood tumor syndrome Specialty Dermatology Childhood tumor syndrome is a condition characterized by axillary freckling, neurofibromas and/or CNS gliomas. [1] See also [ edit ] Apert syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Lowry–MacLean syndrome Specialty Dermatology Lowry–MacLean syndrome is a congenital condition that may be characterized by an ear pit . [1] See also [ edit ] Limb–mammary syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Lowry and MacLean (1977) reported the case of a 29-month-old Caucasian girl with mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure. Cohen (1978) dubbed this cleft syndrome as Lowry-MacLean syndrome and classified it as a previously unreported multiple congenital anomalies-mental retardation (MCA/MR) syndrome. ... The genetic basis of this seemingly distinctive syndrome is unclear. It may be due to an autosomal dominant mutation.
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. ... Genetic counseling The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance.
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Schweckendiek et al. (1976) described identical male twins with HMC syndrome. Baraitser (1982) described a 1-month-old male infant with unilateral left-sided cleft lip, a cleft palate, gross hypertelorism, narrow palpebral fissures and a broad bifid nose. ... Amiel et al. (2001) reported 2 additional unrelated cases of hypertelorism, microtia, and facial clefting syndrome. Both patients were males of normal intelligence.
A rare syndromesyndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. ... Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.
A number sign (#) is used with this entry because of evidence that Basan syndrome (BASAN) is caused by heterozygous mutation in the SMARCAD1 gene (612761) on chromosome 4q22. Mutation in the SMARCAD1 gene can also cause phenotypes with features overlapping those of Basan syndrome, including isolated adermatoglyphia (ADERM; 136000) and Huriez syndrome (HRZ; 181600). ... Marks et al. (2014) studied a 4-generation family with Basan syndrome in which 7 members were affected. ... Molecular Genetics In affected members of a 4-generation family with Basan syndrome, Marks et al. (2014) identified heterozygosity for a splice site mutation in the SMARCAD1 gene (c.378+3A-T; 612761.0005). ... Exclusion Studies In 2 affected members of a 4-generation family with Basan syndrome, Marks et al. (2014) sequenced all coding regions and splice junctions of the KRT14 gene (148066) but did not find any likely pathogenic sequence alterations or splice site variants.
Hecht Scott syndrome Other names Fibular aplasia-tibial campomelia-oligosyndactyly syndrome Diagnostic method Radiographs, physical examination Management Orthoses, Limb lengthening, Epiphysiodesis, Early amputations, Prosthesis Hecht Scott syndrome (also known as fibular aplasia-tibial campomelia-oligosyndactyly syndrome ) is a rare genetic disease that causes congenital limb formation. [1] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia ) of the limb. [2] It is currently presenting in less than 1 in 1,000,000 newborns. [3] It has been known to be more commonly present in males. [1] It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature. [4] Contents 1 Signs and symptoms 2 Genetics 3 Treatment 4 History 5 Cases 6 References Signs and symptoms [ edit ] Hecht Scott syndrome effects the tibia and fibula . [2] Common physical symptoms show a short leg, the ankle and foot being short and deformed, absence of rays and bowing of the tibia . [5] Another physical symptom is the presence of contralateral oligosyndactyly of the hand. [2] Hecht Scott syndrome is also associated with psychosocial morbidity and mortality. [5] Therefore, early diagnosis and treatment of this syndrome is vital. [5] Prenatal screening can reveal whether the child will have Hecht Scott syndrome by observing skeletal abnormalities. [6] Genetics [ edit ] WNT7A is a gene that is a member of the WNT family. [7] The WNT family consists of structurally related genes. [7] Mutations in WNT7A causes a range of diseases associated with limb malformations. [8] Such diseases include Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome. [8] However, in the case of Hecht Scott syndrome there seems to be no mutation in the WNT7A gene. [1] [8] Furthermore, there is a cluster of homeobox D genes on chromosome 2 that participates in the development of limbs. [1] There is no evidence of mutations on these genes being the cause of Hecht Scott syndrome. There is no conclusive prognosis of mutation in genes causing Hecht Scott evidence but due to the high prevalence of this disease in males, it was suggested by Hecht and Scott that the disease has an " autosomal dominant gene with decreased penetrance or gonadal mosaicism ." [4] Evans et al. have also defined Hecht Scott syndrome as a " heterogeneous disorder with a dominant inheritance ". [9] Hecht Scott syndrome often gets confused with Fuhrmann syndrome. [10] However, in the case of Fuhrmann's syndrome, there is a homozygous mutation of WNT7A gene [10] Furthermore, Fuhrmann syndrome patients present with pelvic and femur abnormalities. [11] Treatment [ edit ] There is no prevention of Hecht Scott syndrome as there is no clear understanding of the causation of this disease. ... "First Case of Bilateral Fibular Aplasia, Tibial Campomelia and Oligodactyly Syndrome (FATCO Syndrome)" . Clinical Studies & Medical Case Reports . 4 (3): 1–3. doi : 10.24966/CSMC-8801/100046 . ^ a b c d e f g h i j k l Courtens, Winnie (2005). ... "Limb deficiency syndrome in half-sibs". Clinical Genetics . 20 (6): 432–437. doi : 10.1111/j.1399-0004.1981.tb01054.x . ... "A Male Newborn Infant with FATCO Syndrome (Fibular Aplasia, Tibial Campomelia and Oligodactyly): A Case Report".
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays.
For other uses, see Soldier's heart (disambiguation) . Da Costa's syndrome Other names Soldier's heart Specialty Psychiatry , Cardiology Da Costa's syndrome is a syndrome with a set of symptoms that are similar to those of heart disease . ... The orthostatic intolerance observed by Da Costa has since also been found in patients diagnosed with chronic fatigue syndrome , postural orthostatic tachycardia syndrome (POTS) [3] and mitral valve prolapse syndrome . [4] In the 21st century, this intolerance is classified as a neurological condition. ... Use of the term "Da Costa's syndrome" peaked in the early 20th century. ... Retrieved 2008-05-28 . ^ Paul Wood, MD (1941-05-24). "Da Costa's Syndrome (or Effort Syndrome). Lecture I" . ... The Soldier's Heart and the Effort Syndrome (1st ed.). London: Shaw & Sons. p. 2.
Snapping hip syndrome Other names Coxa saltans, iliopsoas tendinitis, dancer's hip Anterior hip muscles Specialty Rheumatology Snapping hip syndrome , also referred to as dancer's hip , is a medical condition characterized by a snapping sensation felt when the hip is flexed and extended. ... This normal action becomes a snapping hip syndrome when one of these connective tissue bands thickens and catches with motion. ... Massage or self-myofascial release may be an effective intervention for external snapping hip syndromes. [2] It’s suggested that using soft-tissue modalities to target the iliopsoas for medial extra-articulate snapping hip syndrome and gluteus maximus, tensor fasciae latae, and ITB complex for lateral extras-articulate napping hip syndrome may be effective in treating symptoms of snapping hip syndrome. [2] See also [ edit ] Femoral acetabular impingement Iliotibial band syndrome References [ edit ] ^ Morelli V, Espinoza L (March 2005). ... PMID 15831318 . ^ a b c d Cheatham SW, Cain M, Ernst MP (October 2015). "Snapping Hip Syndrome". Strength and Conditioning Journal . 37 (5): 97–104. doi : 10.1519/SSC.0000000000000161 . ... Retrieved 19 January 2007 . ^ Garry JP, Talavera F, White RD. "External snapping hip syndrome" . MedScape . ^ a b Musick SR, Varacallo M (2019), "Snapping Hip Syndrome" , StatPearls , StatPearls Publishing, PMID 28846235 , retrieved 2019-03-12 ^ a b c "Snapping hip syndrome" (PDF) .
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). ... Clinical Features Beemer et al. (1983) reported a 'new' short rib syndrome in 2 unrelated infants who died shortly after birth. ... Despite the absence of polydactyly, the question of whether this was the Majewski syndrome (see SRTD6, 263520) was raised. One brother had renal and pancreatic dysplasia as in Majewski syndrome. Winter (1988) also described a female infant with radiologic features of a lethal short rib syndrome but no polydactyly. ... The absence of polydactyly was originally considered one of the main discriminating factors between Beemer-Langer syndrome and Majewski syndrome. Lurie (1994) analyzed 6 reported cases of Beemer-Langer syndrome in sibs, in which at least 1 infant had classic manifestations (i.e., without polydactyly).
A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.
Dhat is thought to be a culture-bound syndrome similar to jiryan ( South-East Asia ), prameha ( Sri Lanka ), and shen-k'uei ( China ). [3] Dhat syndrome might be related to other post-orgasmic diseases, such as post-coital tristesse (PCT), postorgasmic illness syndrome (POIS), and sexual headache . ... "Dhat syndrome :A reappraisal" . Indian Journal of Dermatology . 54 (1): 89–90. doi : 10.4103/0019-5154.49002 . ... "The concept and epidemiology of dhat syndrome". The Journal of Pakistan Psychiatric Society . 2 (6). [1] ^ Ruterbusch, K. (2012, July 20) "Dhat Syndrome in the Indian Subcontinent", Retrieved March 29, 2013, from anthropology.msu.edu. [2] ^ Khan, Nashi (2005). "Dhat syndrome in relation to demographic characteristics" . ... PMID 19192133 . ^ Sumathipala A, Siribaddana SH, Bhugra D (March 2004). "Culture-bound syndromes: the story of dhat syndrome" .
Find sources: "Shenkui" – news · newspapers · books · scholar · JSTOR ( February 2015 ) ( Learn how and when to remove this template message ) Shenkui Pronunciation shen-kʼuei Specialty Psychiatry Shenkui is a culture bound syndrome native to China , as well as exists globally, in which the individual suffers withdrawal like symptoms including painful brainfog, chills, nausea, and even flu like symptoms with anxiety, believed to be caused by a loss of semen and orgasm. ... Shenkui or shen-k'uei is one of several Chinese culture-bound syndromes locally ascribed to getting stuck in yang and the needing of yin to rebalance Yang ( Chinese : 陽). ... In order to diagnose someone, it is necessary to make the effort to understand their home culture. Whether it is a culture bound syndrome or not, a person’s background determines how they see and interpret their own symptoms and how it must be treated. [10] See also [ edit ] Postorgasmic illness syndrome Cross-cultural psychiatry Koro Dhat syndrome References [ edit ] ^ [1] [ dead link ] ^ a b c Wen Jung-Kwang, Wang Ching-Lun. Shen-k'uei syndrome: a culture-specific sexual neurosis in Taiwan. ... Retrieved 2015-02-21 . ^ a b "Culture-Bound Syndromes in the DSM-IV-TR flashcards" .
Unsourced or poorly sourced material may be challenged and removed . Find sources: "Waardenburg Syndrome Type 2D" – news · newspapers · books · scholar · JSTOR ( May 2020 ) Waardenburg Syndrome Type 2D This condition is inherited in an autosomal recessive manner Causes mutation in SLUG(SNAI2) gene Waardenburg Syndrome Type 2D , a subtype of the Waardenburg syndrome , is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. ... The patients studied for the subtype 2D were both screened and showed deletion of both copies of the SLUG gene, displaying evidence of these mutations to the symptoms in the Waardenburg Syndrome Type 2D. [1] Diagnosis [ edit ] In general, Waardenburg Syndrome has five major criteria, which are as follows: congenital hearing loss , iris pigmentation abnormality, hair pigmentation abnormality, dystopia canthorum, and a relative with the Waardenburg syndrome. ... There is often misdiagnosis between Type 1 and Type 2 of the Waardenburg syndrome due to such close similarities between the observed phenotype. ... "Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2" . PLOS ONE . 7 (7): e41927. ... "Review and update of mutations causing Waardenburg syndrome" . Human Mutation . 31 (4): 391–406. doi : 10.1002/humu.21211 .
A number sign (#) is used with this entry because of evidence that Marden-Walker syndrome (MWKS) is caused by heterozygous mutation in the PIEZO2 gene (613629) on chromosome 18p11. ... There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. ... Differences from the Pena-Shokeir (208150) and Schwartz-Jampel (255800) syndromes were reviewed. Pulmonary hypoplasia was reported only in Pena-Shokeir syndrome and myotonia was present only in individuals with Schwartz-Jampel syndrome. ... The authors proposed that Marden-Walker syndrome is a cause of the heterogeneous fetal a(hypo)kinesia deformation sequence. ... A high degree of concordance was noted between the clinical features of the Marden-Walker syndrome and those observed in patients with 21q22.11 deletions.
Clinical description The typical age of onset lies in the neonatal or infancy period and clinically Marden-Walker syndrome (MWS) is characterized by postnatal growth retardation and multiple joint contractures associated with restricted mobility of the joints. ... Differential diagnosis Differential diagnosis includes trisomy 13 and 18, Smith-Lemli-Opitz syndrome, Zellweger syndrome, spinal cord injury, amyoplasia congenita, infantile spinal muscular atrophy, Moebius syndrome, congenital hypomyelinating neuropathy, blepharophimosis-intellectual deficit syndromes, Van den Ende-Gupta syndrome, Freeman-Sheldon syndrome, Schwartz-Jampel syndrome (same clinical presentation but MWS lacks myotonia), infantile neuronal degeneration and focal infantile spinal muscular atrophy.
Marden-Walker syndrome Other names Connective tissue disorder Marden Walker type Marden-Walker syndrome has an autosomal recessive pattern of inheritance . ... The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. [ citation needed ] Pathophysiology [ edit ] Though the pathomechanism of Marden–Walker syndrome is unknown, it may be caused by a genetic defect which manifests as a dysfunctional molecular mechanism in the primary cilia structures of the cell . ... You can help by adding to it . ( July 2017 ) Management [ edit ] The only treatment for MWS is only symptomatic, with multidisciplinary management [7] Epidemiology [ edit ] There have been 30 cases of Marden-Walker Syndrome reported since 1966. [ where? ] The first case of this was in 1966 a female infant was diagnosed with blepharophimosis , joint contractures , arachnodactyly and growth development delay. ... "Renal anomalies in Marden-Walker syndrome: A clue for prenatal diagnosis". ... PMID 16722803 . ^ "Marden-Walker syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . ^ https://www.orpha.net/data/patho/GB/uk-MardenWalker.pdf ^ "Marden Walker Syndrome" . ^ http://www.rightdiagnosis.com/m/marden_walker_syndrome/intro.htm External links [ edit ] Marden-Walker syndrome at NIH 's Office of Rare Diseases Marden Walker like syndrome at NIH 's Office of Rare Diseases OMIM: 600920 Classification D ICD - 10 : Q87.0 OMIM : 248700 MeSH : C535910 External resources Orphanet : 2461
Grange syndrome is a rare condition that primarily affects the blood vessels. ... Most people with this disorder also have heart defects that are present from birth. Frequency Grange syndrome has been reported to affect at least six individuals from three families. Causes Grange syndrome results from mutations in the YY1AP1 gene. ... It is also unknown how YY1AP1 gene mutations are related to other features of Grange syndrome, such as bone abnormalities and learning disabilities. Learn more about the gene associated with Grange syndrome YY1AP1 Inheritance Pattern This condition is thought to be inherited in an autosomal recessive pattern , which means both copies of the YY1AP1 gene in each cell have mutations.
A number sign (#) is used with this entry because of evidence that Grange syndrome (GRNG) is caused by homozygous or compound heterozygous mutation in the YY1AP1 gene (607860) on chromosome 1q22. ... Wallerstein et al. (2006) noted that this was the third reported patient with features of Grange syndrome without congenital cardiac anomalies, suggesting that congenital cardiac abnormalities may not be essential for the diagnosis. ... She was also diagnosed with long QT syndrome (see 192500) and had undergone implantation of a cardioverter-defibrillator. ... In addition, Guo et al. (2017) reported a girl (DVD112) with borderline intellectual disability who exhibited features of Grange syndrome, including mild facial dysmorphism (hypertelorism), brachydactyly, fifth-finger clinodactyly, and mild cutaneous syndactyly of the second and third toes. ... Another patient (DVD112) with features of Grange syndrome was determined to be homozygous for a nonsense mutation (Q222X; 607860.0005).
Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases. Epidemiology So far, the syndrome has been reported in six patients from three families.
SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). ... It is slightly more predominant in males (male-to-female ratio of 1.5:1), with a mean age of onset of around 50 years. A few cases of SUNCT syndrome have been reported in children. ... It is very important to differentiate SUNCT syndrome from other trigeminal autonomic cephalgias such as cluster headache and paroxysmal hemicrania (see these terms), as each of these syndromes has a highly selective response to treatment. Management and treatment There is no cure for SUNCT syndrome. SUNCT patients may benefit from administration of carbamazepine, lamotrigine, gabapentin or topiramate. Oxygen, anaesthetic blockades, and sumatriptan or indomethacin therapies, known to be effective in other trigeminal autonomic cephalgias, have little or no effect in SUNCT syndrome. In severe cases, several surgical techniques may be considered (microvascular trigeminal nerve root decompression, trigeminal ganglion balloon compression, or superior cervical ganglion opioid blockade).
"A review of paroxysmal hemicranias, SUNCT syndrome and other short-lasting headaches with autonomic feature, including new cases" . ... PMID 17497264 . ^ Rocha Filho PA, Galvão AC, Teixeira MJ, et al. (June 2006). "SUNCT syndrome associated with pituitary tumor: case report" . ... PMID 16917628 . ^ Choi JY, Seo WK, Kim JH, Oh K, Yu SW (2008). "Symptomatic SUNCT syndrome associated with ipsilateral paranasal sinusitis". ... "Response to intravenous lidocaine in a patient with SUNCT syndrome". Cephalalgia . 30 (1): 110–2. doi : 10.1111/j.1468-2982.2009.01871.x . ... "Methylprednisolone therapy for short-term prevention of SUNCT syndrome". Cephalalgia . 30 (6): 735–9. doi : 10.1111/j.1468-2982.2009.01971.x .
Specialty Medical genetics Stenosis of the pulmonary artery is a condition where the pulmonary artery is subject to an abnormal constriction (or stenosis ). [1] Peripheral pulmonary artery stenosis may occur as an isolated event or in association with Alagille syndrome , Berardinelli-Seip congenital lipodystrophy type 1, Costello syndrome , Keutel syndrome , nasodigitoacoustic syndrome (Keipert syndrome), Noonan syndrome or Williams syndrome . ... For peripheral pulmonary artery stenosis in Alagille syndrome" . Tex Heart Inst J . 25 (1): 79–82. ... External links [ edit ] Classification D ICD - 10 : Q25.6 ICD - 9-CM : 747.3 MeSH : D000071079 v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation This article about a medical condition affecting the circulatory system is a stub .
"Intragastrointestinal alcohol fermentation syndrome: report of two cases and review of the literature". ... "Case-Control Research Study of Auto-Brewery Syndrome" . Global Advances in Health and Medicine . 8 : 2164956119837566. doi : 10.1177/2164956119837566 . ... "Endogenous ethanol 'auto-brewery syndrome' as a drunk-driving defence challenge". ... "Drunk Without Drinking: A Case of Auto-Brewery Syndrome" . ACG Case Reports Journal . 6 (9): e00208. doi : 10.14309/crj.0000000000000208 . ... "Case report and literature review of auto-brewery syndrome: probably an underdiagnosed medical condition" .
Baboon syndrome Specialty Dermatology Symmetrical drug-related intertriginous and flexural exanthema ( SDRIFE ), more popularly known as Baboon syndrome because of its resemblance to the distinctive red buttocks displayed by female baboons , is a systemic contact dermatitis characterized by well-demarcated patches of erythema distributed symmetrically on the buttocks. [1] The cause of the syndrome may be drug-related, i.e. induced by systemic administration of hydroxyzine [2] penicillin, [3] iodinated radio contrast media [4] and others. ... PMID 23723506 . ^ Handisurya, A.; Stingl, G.; Wöhrl, S. (Apr 2009). "SDRIFE (baboon syndrome) induced by penicillin". Clin Exp Dermatol . 34 (3): 355–7. doi : 10.1111/j.1365-2230.2008.02911.x . ... "Recurrent flexural exanthema (SDRIFE or baboon syndrome) after administration of two different iodinated radio contrast media". ... PMID 17191055 . ^ Utaş, S.; Ferahbaş, A. (2009). "Baboon syndrome and segmental vitiligo coexistence". ... Retrieved 2019-04-19 . ^ Moreno-Ramírez, D.; García-Bravo, B.; Pichardo, AR.; Rubio, FP.; Martínez, FC. (2004). "Baboon syndrome in childhood: easy to avoid, easy to diagnose, but the problem continues".
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).
Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. ... Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
A number sign (#) is used with this entry because of evidence that palmoplantar keratoderma and woolly hair (PPKWH) is caused by homozygous mutation in the KANK2 gene (614610) on chromosome 19p13. Clinical Features Ramot et al. (2014) studied 2 consanguineous Arab families with keratoderma and woolly hair, 1 of which (family 1) had previously been reported (family B) by Djabali et al. (2002). All 7 patients presented with a variable degree of striate palmoplantar keratoderma, which was generally more severe on the soles. Leukonychia was more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes were sparse, and 2 patients also exhibited woolly hair. The fifth toes showed variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe.