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Items: 12

1.

Goldenhar syndrome

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic 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, renal, cardiac, and limb, can be seen. [from GeneReviews]

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

Microsomia hemifacial radial defects

MedGen UID:
67392
Concept ID:
C0220681
Congenital Abnormality; Disease or Syndrome
3.

Growth Hormone

A peptide hormone secreted by the anterior lobe of the pituitary gland and regulates several physiologic processes, including growth and metabolism. [from NCI]

MedGen UID:
20836
Concept ID:
C0037663
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
4.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
5.

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:
811475
Concept ID:
C3714796
Disease or Syndrome
6.

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
7.

Idiopathic growth hormone deficiency

MedGen UID:
450529
Concept ID:
C0342381
Disease or Syndrome
8.

Growth & development aspects

Used with microorganisms, plants, and the postnatal period of animals for growth and development. It includes also the postnatal growth or development of organs or anatomical parts. [from MeSH]

MedGen UID:
264311
Concept ID:
C1457898
Finding; Functional Concept; Physiologic Function
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
10.

Hemifacial hypoplasia

Unilateral underdevelopment of the facial tissues, including muscles and bones. [from HPO]

MedGen UID:
868995
Concept ID:
C4023411
Disease or Syndrome
11.

Hemifacial microsomia

MedGen UID:
831007
Concept ID:
CN199493
Disease or Syndrome
12.

Parachute mitral valve

Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. [from HPO]

MedGen UID:
488916
Concept ID:
C0546965
Congenital Abnormality
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