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1.

4p partial monosomy syndrome

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). [from OMIM]

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

Abnormal form of the vertebral bodies

Abnormal morphology of vertebral body. [from HPO]

MedGen UID:
374194
Concept ID:
C1839326
Anatomical Abnormality; Finding
3.

SCARF syndrome

Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. [from SNOMEDCT_US]

MedGen UID:
326461
Concept ID:
C1839321
Disease or Syndrome
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