Curry-Hall syndrome(WAD)

MedGen UID:: 141594
•Concept ID:: C0457013
•: Disease or Syndrome

Synonyms:	Acrofacial dysostosis of Weyers; WAD; WEYERS ACRODENTAL DYSOSTOSIS; Weyers Acrofacial Dysostosis
SNOMED CT:	Curry-Hall syndrome (277807007); Acrofacial dysostosis Weyers type (277807007); Weyers acrofacial dysostosis (277807007); Weyers acrodental dysostosis (277807007)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Genes (locations): Gene(s) directly associated with this condition or phenotype.	EVC (4p16.2); EVC2 (4p16.2)

Monarch Initiative:	MONDO:0008673
OMIM®:	193530
Orphanet:	ORPHA952

Definition

Weyers acrofacial dysostosis (WAD) is an autosomal dominant disorder with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. 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). [from OMIM]

Additional description

From MedlinePlus Genetics
Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).

The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. 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. https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis

Clinical features

From HPO

Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: Congenital Abnormality

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

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Postaxial hand polydactyly

MedGen UID:: 609221
•Concept ID:: C0431904
•: Congenital Abnormality

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

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Short palm

MedGen UID:: 334684
•Concept ID:: C1843108
•: Finding

Short palm.

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Clinodactyly of the 5th finger

MedGen UID:: 340456
•Concept ID:: C1850049
•: Congenital Abnormality

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

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Postaxial foot polydactyly

MedGen UID:: 384489
•Concept ID:: C2112129
•: Finding

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.

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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.

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Prominent antihelix

MedGen UID:: 335147
•Concept ID:: C1845272
•: Finding

The presence of an abnormally prominent antihelix.

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Conical tooth

MedGen UID:: 82730
•Concept ID:: C0266037
•: Congenital Abnormality

An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.

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Solitary median maxillary central incisor syndrome

MedGen UID:: 326686
•Concept ID:: C1840235
•: Congenital Abnormality

Solitary median maxillary central incisor (SMMCI) may occur as an isolated anomaly or with various associated features, primarily short stature, choanal atresia, midnasal stenosis, and holoprosencephaly (Hall et al., 1997).

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Small nail