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Items: 6

1.

Van der Woude syndrome

IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP)?Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P . Fistulae of the lower lip . Webbing of the skin extending from the ischial tuberosities to the heels . In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes . Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic) . In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon) . In both VWS and PPS, growth and intelligence are normal. [from GeneReviews]

MedGen UID:
61233
Concept ID:
C0175697
Congenital Abnormality; Disease or Syndrome
2.

Inflammation

A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
3.

Infections

MedGen UID:
833099
Concept ID:
CN228891
Finding
4.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
5.

Bronchopulmonary dysplasia of newborn

chronic lung disease of infants, possibly related to oxygen toxicity or barotrauma, characterized by bronchiolar metaplasia and interstitial fibrosis. [from CRISP]

MedGen UID:
2738
Concept ID:
C0006287
Disease or Syndrome
6.

Decreased activity of NADPH oxidase

MedGen UID:
336679
Concept ID:
C1844394
Finding
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