Format

Send to:

Choose Destination

Search results

Items: 3

1.

Cardio-facio-cutaneous syndrome

Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia (ALL), has been reported in some individuals. [from GeneReviews]

MedGen UID:
266149
Concept ID:
C1275081
Congenital Abnormality; Disease or Syndrome
2.

Mental retardation, anterior maxillary protrusion, and strabismus

MedGen UID:
462274
Concept ID:
C3150924
Disease or Syndrome
3.

Open bite

Visible space between the dental arches in occlusion. [from HPO]

MedGen UID:
506402
Concept ID:
CN116541
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center