Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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.

See: Feature record | Search on this feature

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).

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Solitary median maxillary central incisor syndrome

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

A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.

See: Feature record | Search on this feature

Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

See: Feature record | Search on this feature

Increased groin pigmentation with raindrop depigmentation

MedGen UID:: 870429
•Concept ID:: C4024875
•: Disease or Syndrome

See: Feature record | Search on this feature

Show all Hide all

Abnormality of head or neck
- Solitary median maxillary central incisor syndrome
Abnormality of limbs
- Short thumb
Abnormality of the integument
- Alopecia
- Increased groin pigmentation with raindrop depigmentation
Abnormality of the nervous system
- Intellectual disability
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThumb deformity-alopecia-pigmentation anomaly syndrome

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of skin
        Ectodermal dysplasia
        Thumb deformity-alopecia-pigmentation anomaly syndrome

Recent clinical studies

Prognosis

Clinical Manifestations of Constriction Band Syndrome.

Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174

A multidisciplinary review of triphalangeal thumb.

Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985 Free PMC Article

The trisomy 18 syndrome.

Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440 Free PMC Article

Radiological features in Brachmann-de Lange syndrome.

Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

See all (36)

MedGen

National Center for Biotechnology Information

Send to:

Thumb deformity-alopecia-pigmentation anomaly syndrome

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Prognosis

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity