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Items: 3

1.

4p partial monosomy syndrome

Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features in infancy consisting of ‘Greek warrior helmet’ appearance of the nose (wide bridge of the nose continuing to the forehead), microcephaly, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arched eyebrows, short philtrum, downturned corners of the mouth, micrognathia, and poorly formed ears with pits/tags. All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay/intellectual disability of variable degree is present in all. Seizures occur in 90% to 100% of children with WHS. Other findings include skeletal anomalies (60%-70%), congenital heart defects (~50%), hearing loss (mostly conductive) (>40%), urinary tract malformations (25%), and structural brain abnormalities (33%). [from GTR]

MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
2.

Wittwer syndrome

Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies, delayed development, skeletal anomalies, urogenital anomalies, and deformed hands. [from MCA/MR]

MedGen UID:
162921
Concept ID:
C0796202
Disease or Syndrome
3.

Pitt syndrome

A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16. [from MeSH]

MedGen UID:
162910
Concept ID:
C0796117
Disease or Syndrome
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