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Results: 9

1.

Goldenhar syndrome

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, cardiac, and limb, can be seen. [from GeneReviews]

MedGen UID:
75554
Concept ID:
C0265240
Disease or Syndrome
2.

Microsomia hemifacial radial defects

MedGen UID:
67392
Concept ID:
C0220681
Congenital Abnormality
3.

Somatotropin preparation

A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. [from MeSH]

MedGen UID:
20836
Concept ID:
C0037663
Pharmacologic Substance
4.

Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies. [from ORDO]

MedGen UID:
799750
Concept ID:
CN204886
Disease or Syndrome
5.

Idiopathic growth hormone deficiency

MedGen UID:
450529
Concept ID:
C0342381
Disease or Syndrome
6.

Error occurred: cannot get document summary

ID:
449084

7.

Error occurred: cannot get document summary

ID:
441161

8.

Growth hormone deficiency

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. [from HPO]

MedGen UID:
428231
Concept ID:
CN000771
Finding
9.

Somatotropin deficiency

An abnormality of growth hormone production resulting in below normal levels of circulating growth hormone. [from NCI]

MedGen UID:
82880
Concept ID:
C0271561
Disease or Syndrome

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