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Broad terminal phalanges, familial

MedGen UID:
400879
Concept ID:
C1865923
Disease or Syndrome
Synonym: Broad Terminal Phalanges, Familial
 
Monarch Initiative: MONDO:0011180
OMIM®: 602071

Clinical features

From HPO
Broad distal phalanx of finger
MedGen UID:
342551
Concept ID:
C1850630
Finding
Abnormally wide (broad) distal phalanx of finger.
Broad distal phalanx of the toes
MedGen UID:
869552
Concept ID:
C4023980
Anatomical Abnormality
Increased width of the distal phalanx of toe of one or more toes.

Recent clinical studies

Etiology

Natarajan U, Baraitser M, Nicolaides K, Gosden C
Clin Dysmorphol 1993 Oct;2(4):360-4. PMID: 8305967
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Diagnosis

Natarajan U, Baraitser M, Nicolaides K, Gosden C
Clin Dysmorphol 1993 Oct;2(4):360-4. PMID: 8305967
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Prognosis

Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Clinical prediction guides

Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

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