Acropectoral syndrome(ACRPS)

MedGen UID:: 342975
•Concept ID:: C1853812
•: Disease or Syndrome

Synonyms:	ACRPS; Syndactyly, preaxial polydactyly and sternal deformity
SNOMED CT:	Acropectoral syndrome (720412009); Acro-pectoral syndrome (720412009); Syndactyly with preaxial polydactyly and sternal deformity syndrome (720412009)
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)

Monarch Initiative:	MONDO:0011621
OMIM®:	605967
Orphanet:	ORPHA85203

Definition

Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. [from SNOMEDCT_US]

Clinical features

From HPO

Triphalangeal thumb

MedGen UID:: 66029
•Concept ID:: C0241397
•: Congenital Abnormality

A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.

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Preaxial polydactyly

MedGen UID:: 87498
•Concept ID:: C0345354
•: Congenital Abnormality

A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.

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Partial duplication of thumb phalanx

MedGen UID:: 909031
•Concept ID:: C4082168
•: Anatomical Abnormality

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.

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Intellectual disability, moderate