Acropectorovertebral dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ACRPV
f syndrome
Number of Symptoms 31
OrphanetNr: 957
OMIM Id: 102510
ICD-10: Q68.1
Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
3
 (HPO:0011304) Broad thumb 39 / 7739
4
 (HPO:0001241) Capitate-hamate fusion 6 / 7739
5
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
6
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
7
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
8
 (HPO:0004601) Spina bifida occulta at L5 1 / 7739
9
 (HPO:0000765) Abnormality of the thorax 64 / 7739
10
 (HPO:0002652) Skeletal dysplasia 113 / 7739
11
 (HPO:0009778) Short thumb 50 / 7739
12
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
13
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
14
 (HPO:0009467) Radial deviation of the 2nd finger 6 / 7739
15
 (HPO:0004614) Spina bifida occulta at S1 2 / 7739
16
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
17
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
18
 (HPO:0009611) Bifid distal phalanx of the thumb 15 / 7739
19
 (HPO:0001770) Toe syndactyly 149 / 7739
20
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
21
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
22
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
23
 (OMIM) Pectoral anomaly 1 / 7739
24
 (OMIM) Thumb and index finger syndactyly 1 / 7739
25
 (OMIM) Sternal deformity 2 / 7739
26
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
27
 (OMIM) Abnormal segmentation of the first ray 1 / 7739
28
 (OMIM) Spina bifida occulta at L5 or S1 1 / 7739
29
 (OMIM) Malformed toes 2 / 7739
30
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
 (OMIM) Broad, short thumbs 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Grosse et al. (1969) described 8 persons in 4 generations of a kindred (of surname beginning with F) who showed a skeletal dysplasia. Male-to-male transmission was observed. The hand malformation was mainly abnormal segmentation of the first ray. ...