Acropectorovertebral dysplasia(ACRPV)

MedGen UID:: 400262
•Concept ID:: C1863307
•: Disease or Syndrome

Synonyms:	Acropectorovertebral dysplasia F form; F syndrome
SNOMED CT:	Acropectorovertebral dysplasia (720457000); F syndrome (720457000)
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:0007058
OMIM®:	102510
Orphanet:	ORPHA957

Definition

Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004). [from OMIM]

Clinical features

From HPO

Finger syndactyly

MedGen UID:: 65139
•Concept ID:: C0221352
•: Congenital Abnormality

Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".

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Toe syndactyly

MedGen UID:: 75581
•Concept ID:: C0265660
•: Congenital Abnormality

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".

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Broad thumb

MedGen UID:: 140880
•Concept ID:: C0426891
•: Finding

Increased thumb width without increased dorso-ventral dimension.

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Short thumb

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

Hypoplasia (congenital reduction in size) of the thumb.

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Radial deviation of the 2nd finger

MedGen UID:: 335012
•Concept ID:: C1844709
•: Finding

Displacement of the 2nd finger towards the radial side.

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Bifid distal phalanx of the thumb

MedGen UID:: 348557
•Concept ID:: C1860162
•: Congenital Abnormality

Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.

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Spina bifida occulta at S1