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Items: 7

1.

Cleft lip

A gap in the lip or lips. [from HPO]

MedGen UID:
1370297
Concept ID:
C4321245
Anatomical Abnormality
2.

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
3.

Cleft lip/palate

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. [from ORDO]

MedGen UID:
57640
Concept ID:
C0158646
Congenital Abnormality; Finding
4.

Abnormality of the skin

An abnormality of the skin. [from HPO]

MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
5.

Cleft palate-short stature-vertebral anomalies syndrome

A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. [from SNOMEDCT_US]

MedGen UID:
930373
Concept ID:
C4304704
Disease or Syndrome
6.

Abnormal circulating interferon concentration

The concentration of an interferon is outside the limits of normal. [from HPO]

MedGen UID:
869113
Concept ID:
C4023531
Anatomical Abnormality
7.

Microbrachycephaly-ptosis-cleft lip syndrome

The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate (Richieri-Costa and Guion-Almeida, 1992). [from OMIM]

MedGen UID:
162914
Concept ID:
C0796142
Disease or Syndrome
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