U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mesoaxial synostotic syndactyly with phalangeal reduction(MSSD)

MedGen UID:
324459
Concept ID:
C1836206
Disease or Syndrome
Synonyms: Syndactyly Malik-Percin type; Syndactyly type 9
SNOMED CT: Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (724170007); Syndactyly Malik Percin type (724170007); Syndactyly type 9 (724170007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): BHLHA9 (17p13.3)
 
Monarch Initiative: MONDO:0012271
OMIM®: 609432
Orphanet: ORPHA157801

Definition

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). [from OMIM]

Clinical features

From HPO
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
MedGen UID:
320253
Concept ID:
C1834034
Finding
Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.
Proximal/middle symphalangism of 5th finger
MedGen UID:
332151
Concept ID:
C1836212
Finding
Fusion of the proximal and middle phalanges of the 5th finger.
Aplasia/Hypoplasia of the hallux
MedGen UID:
373036
Concept ID:
C1836213
Finding
Absence or underdevelopment of the big toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
3-4 finger osseus syndactyly
MedGen UID:
346463
Concept ID:
C1856889
Finding
Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
MedGen UID:
396303
Concept ID:
C1862144
Finding
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Symphalangism affecting the phalanges of the hallux
MedGen UID:
373038
Concept ID:
C1836216
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesoaxial synostotic syndactyly with phalangeal reduction
Follow this link to review classifications for Mesoaxial synostotic syndactyly with phalangeal reduction in Orphanet.

Recent clinical studies

Diagnosis

Phadke SR, Kar A, Bhowmik AD, Dalal A
Am J Med Genet A 2016 Jun;170(6):1622-5. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37643. PMID: 27041388

Prognosis

Díaz-González F, Parrón-Pajares M, Barcia-Ramirez A, Heath KE
Am J Med Genet A 2020 Apr;182(4):628-631. Epub 2020 Jan 7 doi: 10.1002/ajmg.a.61480. PMID: 31912643

Clinical prediction guides

Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH
Am J Med Genet A 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. PMID: 15779011

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...