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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Craniofrontonasal dysplasia in two male sibs.
Natarajan U, Baraitser M, Nicolaides K, Gosden C
Clin Dysmorphol 1993 Oct;2(4):360-4. PMID: 8305967
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Diagnosis

Craniofrontonasal dysplasia in two male sibs.
Natarajan U, Baraitser M, Nicolaides K, Gosden C
Clin Dysmorphol 1993 Oct;2(4):360-4. PMID: 8305967
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Prognosis

Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Clinical prediction guides

Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

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