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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). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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Proximal/middle symphalangism of 5th finger

MedGen UID:: 332151
•Concept ID:: C1836212
•: Finding

Fusion of the proximal and middle phalanges of the 5th finger.

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Aplasia/Hypoplasia of the hallux

MedGen UID:: 373036
•Concept ID:: C1836213
•: Finding

Absence or underdevelopment of the big toe.

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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).

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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.

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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger

MedGen UID:: 396303
•Concept ID:: C1862144
•: Finding

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Aplasia/Hypoplasia of the thumb

MedGen UID:: 465975
•Concept ID:: C3179508
•: Finding

Hypoplastic/small or absent thumb.

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Symphalangism affecting the phalanges of the hallux

MedGen UID:: 373038
•Concept ID:: C1836216
•: Finding

See: Feature record | Search on this feature

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Abnormality of limbs
Abnormality of the musculoskeletal system
- Symphalangism affecting the phalanges of the hallux

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMesoaxial synostotic syndactyly with phalangeal reduction

Abnormality of limbs
- Abnormality of limb bone
  - Abnormal limb bone morphology
    - Abnormal digit morphology
      - Syndactyly
        Non-syndromic syndactyly
        Mesoaxial synostotic syndactyly with phalangeal reduction

Follow this link to review classifications for Mesoaxial synostotic syndactyly with phalangeal reduction in Orphanet.

Recent clinical studies

Prognosis

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.

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

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Clinical prediction guides

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

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

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Mesoaxial synostotic syndactyly with phalangeal reduction(MSSD)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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