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Items: 6

1.

Cleft upper lip

A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. [from HPO]

MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
2.

Cleft lip

A gap in the lip or lips. [from HPO]

MedGen UID:
1370297
Concept ID:
C4321245
Anatomical Abnormality
3.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
4.

Orofacial cleft 11

Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (119530). [from OMIM]

MedGen UID:
436944
Concept ID:
C2677434
Disease or Syndrome
5.

Isolated cleft palate

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. [from OMIM]

MedGen UID:
332392
Concept ID:
C1837218
Congenital Abnormality
6.

Orofacial cleft 15

Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. [from MONDO]

MedGen UID:
909661
Concept ID:
C4225209
Congenital Abnormality
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