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4-5 metacarpal synostosis

MedGen UID:
Concept ID:
Anatomical Abnormality; Finding
Synonym: Fused 4th-5th metacarpals
HPO: HP:0005867

Term Hierarchy

Conditions with this feature

Microphthalmia with limb anomalies
MedGen UID:
Concept ID:
Disease or Syndrome
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome (OAS), is a rare autosomal recessive developmental disorder characterized by unilateral or bilateral microphthalmia, clinical anophthalmia, syndactyly, polydactyly, synostosis, or oligodactyly. Long-bone hypoplasia and renal, venous, and vertebral anomalies may also be present. Impaired intellectual development is present in about half of affected individuals (summary by Tekin et al., 2000, Abouzeid et al., 2011).
Syndactyly type 8
MedGen UID:
Concept ID:
Disease or Syndrome
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.
Richieri Costa-Pereira syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Syndactyly type 5
MedGen UID:
Concept ID:
Congenital Abnormality
A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.

Recent clinical studies


Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S
Birth Defects Res A Clin Mol Teratol 2014 Apr;100(4):314-8. Epub 2014 Apr 7 doi: 10.1002/bdra.23239. PMID: 24706454
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Clinical prediction guides

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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