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.

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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.

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Abnormality of limbs
- Broad distal phalanx of finger
- Broad distal phalanx of the toes

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

See all (2)

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

See all (2)

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

See all (1)

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

See all (1)

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Broad terminal phalanges, familial

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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