Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide. Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. [ghr.nlm.nih.gov]

The clinical findings of our patient are consistent with the features of Weyers acrofacial dysostosis. [ FULL TEXT ] [ PDF ]* [amhsjournal.org]

ORPHA:952 Synonym(s): Curry-Hall syndrome Weyers acrodental dysostosis Weyers acrofacial dysostosis Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q75.4 OMIM: 193530 UMLS: C0457013 MeSH: C536695 GARD: 497 MedDRA: - [orpha.net]

People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. [ncbi.nlm.nih.gov]

From HPO Mild short stature MedGen UID: 461427 • Concept ID: C3150077 • Finding A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [ncbi.nlm.nih.gov]

[…] disease or phenotype associations Type phenotype Description Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short [amp.pharm.mssm.edu]

Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs. [checkorphan.org]

In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes. [ncbi.nlm.nih.gov]

As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech [books.google.com]

CrossRef Google Scholar Volume 112, Issue 10 October 1998, pp. 976-978 While evaluating a 61-year-old patient for stridor we incidentally detected a double epiglottis. [journals.cambridge.org]

Greenberg, M. and Magit, A. (2005) Congenital Stridor Secondary to an Upper Airway Cyst in a Patient with Ellis-Van Creveld Syndrome. [scirp.org]

[…] shallow, gasping, increased Color: pallor, red, purple, blue, peripheral, whole body, circumoral Movement and tone: rigid, tonic-clonic, decreased, floppy Observations of productive cough, vomiting: mucus, blood, or noise (silent, cough, gag, wheeze, stridor [aafp.org]

Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). [ncbi.nlm.nih.gov]

Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by {4:Howard et al., 1997}). [diseaseinfosearch.org]

Newsletters These in-depth electronic publications cover major health topics, including men's and women's health, diabetes, and heart disease. [nhbullrunfamilymedicine.org]

EVC is a more serious type of disorder with additional features of thoracic dysplasia and congenital heart disease. [amhsjournal.org]

Ahmed Dental College and Hospital, Kolkata, West Bengal India Source of Support: None, Conflict of Interest: None DOI: 10.4103/amhs.amhs_37_18 Weyers acrofacial dysostosis (Curry-Hall syndrome) is a rare autosomal dominant skeletal dysplasia manifest [amhsjournal.org]

dysplasia Hutchinson-Gilford progeria syndrome hydrocephalus, agyria, and retinal dysplasia see Walker-Warburg syndrome hydrops - ectopic calcification - moth-eaten skeletal dysplasia see Greenberg dysplasia hypercalcemia-supravalvar aortic stenosis [herenciageneticayenfermedad.blogspot.com]

Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. [mybiosource.com]

dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]

Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). [ncbi.nlm.nih.gov]

Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by {4:Howard et al., 1997}). [diseaseinfosearch.org]

Polydactyly with ectodermal defect, osteopenia, and mental delay. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. [ghr.nlm.nih.gov]

Galloway-Mowat syndrome Geleophysic dysplasia Genetic syndrome with limb reduction defects Genitopatellar syndrome Genochondromatosis type 1 Genochondromatosis type 2 Geroderma osteodysplastica Ghosal hematodiaphyseal dysplasia Global developmental delay-osteopenia-ectodermal [se-atlas.de]

Orofacial digital syndromes are a heterogeneous group of genetic disorders characterized by the anomalies of the face, oral cavity, and polydactyly. The presence of nail defects in our case makes this diagnosis unlikely. [amhsjournal.org]

There was no history of sweat gland dysfunction. The clinical findings of our patient are consistent with the features of Weyers acrofacial dysostosis. [ FULL TEXT ] [ PDF ]* [amhsjournal.org]

[…] fewer sweat glands than normal or their sweat glands do not function properly. [icdlist.com]

[…] syndrome Coffin-Siris syndrome cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia see CHOPS syndrome cold hypersensitivity see familial cold autoinflammatory syndrome cold-induced sweating [herenciageneticayenfermedad.blogspot.com]

In 5 of the patients an unusually pungent odor of urine and sweat was noted by parents. One of these patients was reported by Humbert et al. (1970) as a case of trimethylaminuria ( 136131 ) and another patient was suspected of having this condition. [genome.jp]

Examination of his scalp showed normal hair quantity, quality, and structure. There was no history of sweat gland dysfunction. [amhsjournal.org]

An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather and during exercise, because the body cannot cool itself by evaporating sweat.The immune deficiency in EDA-ID varies among individuals [icdlist.com]

HSAN type V see hereditary sensory and autonomic neuropathy type V HSAN V see hereditary sensory and autonomic neuropathy type V HSAN2 see hereditary sensory and autonomic neuropathy type II HSAN4 see congenital insensitivity to pain with anhidrosis [herenciageneticayenfermedad.blogspot.com]