Mesoaxial synostotic syndactyly with phalangeal reduction
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SYNDACTYLY, TYPE IX MSSD Syndactyly type 9 syndactyly, malik-percin type |
| Number of Symptoms | 26 |
| OrphanetNr: | 157801 |
| OMIM Id: |
609432
|
| ICD-10: |
Q70 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 2 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndactyly
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0009177) | Proximal/middle symphalangism of 5th finger | 4 / 7739 | ||||
|
|
(HPO:0009776) | Adactyly | Very frequent [Orphanet] | 11 / 7739 | |||
|
|
(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
|
|
(HPO:0008362) | Aplasia/Hypoplasia of the hallux | 4 / 7739 | ||||
|
|
(HPO:0009568) | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | 4 / 7739 | ||||
|
|
(HPO:0009161) | Aplasia/Hypoplasia of the middle phalanx of the 5th finger | 4 / 7739 | ||||
|
|
(HPO:0005048) | Synostosis of carpal bones | Frequent [Orphanet] | 39 / 7739 | |||
|
|
(HPO:0006097) | 3-4 finger syndactyly | 7 / 7739 | ||||
|
|
(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
|
|
(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0010109) | Short hallux | Very frequent [Orphanet] | 27 / 7739 | |||
|
|
(HPO:0011305) | Partial absence of toe | Very frequent [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
|
|
(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
|
|
(HPO:0010064) | Symphalangism affecting the phalanges of the hallux | 1 / 7739 | ||||
|
|
(HPO:0009700) | Finger symphalangism | Frequent [Orphanet] | 55 / 7739 | |||
|
|
(HPO:0001770) | Toe syndactyly | Very frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
|
|
(OMIM) | Bilateral transverse palmar creases | 4 / 7739 | ||||
|
|
(OMIM) | Aplasia/hypoplasia of middle phalanges of 2nd and 5th fingers | 1 / 7739 | ||||
|
|
(OMIM) | Hypoplasia of distal and middle phalanges | 1 / 7739 | ||||
|
|
(OMIM) | Aplasia/hypoplasia of halluces | 1 / 7739 | ||||
|
|
(OMIM) | Complete or partial syndactyly | 1 / 7739 | ||||
|
|
(OMIM) | Four fingers on each hand | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Complete syndactyly/synostosis of 3rd-4th fingers | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Percin et al. (1998) described a large inbred Turkish pedigree in which 9 affected individuals had type I syndactyly (see 185900). The pedigree also included 3 individuals, born to first-cousin affected parents, who were found to have a ... |