Thumb deformity-alopecia-pigmentation anomaly syndrome

MedGen UID:: 348284
•Concept ID:: C1861168
•: Disease or Syndrome

Synonyms:	Sparse hair-short stature-skin anomalies syndrome; Thumb deformity and alopecia
SNOMED CT:	Thumb deformity, alopecia, pigmentation anomaly syndrome (771182002); Sparse hair, short stature, skin anomalies syndrome (771182002)

Monarch Initiative:	MONDO:0008562
OMIM®:	188150
Orphanet:	ORPHA2251

Definition

A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of ''raindrop'' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. [from SNOMEDCT_US]

Clinical features

From HPO

Short thumb

MedGen UID:: 98469
•Concept ID:: C0431890
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the thumb.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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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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Alopecia