Genetics Home Reference :
25
Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.
Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).
Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.
Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.
Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
MalaCards based summary :
Meier-Gorlin Syndrome 1, also known as
meier-gorlin syndrome, is related to
seckel syndrome and
isolated growth hormone deficiency, type ia. An important gene associated with Meier-Gorlin Syndrome 1 is
ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways/superpathways are
Cell cycle and
CDK-mediated phosphorylation and removal of Cdc6. Affiliated tissues include
breast,
bone and
testes, and related phenotypes are
abnormality of epiphysis morphology and
failure to thrive
Disease Ontology :
12
A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
NIH Rare Diseases :
52
Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature , and absent or very small kneecaps (patellae). Other signs and symptoms can include hearing loss , feeding problems, respiratory tract abnormalities, small chin, and small head size. People with MGS may also have characteristic facial features including a small mouth, full lips and a narrow nose. Females with MGS may have underdeveloped breasts. Most people with this syndrome have normal intelligence. There are many forms of MGS and it can be caused by mutations in any of eight different genes : ORC1 , ORC4 , ORC6 , CDT1 , CDC6 , CDC45L , MCM5 and GMNN . Most forms of MGS are inherited in an autosomal recessive pattern. The form caused by the GMNN gene is inherited in an autosomal dominant pattern. MGS is diagnosed based on the clinical signs and symptoms. Genetic testing can aid in the diagnosis. Treatment is based on the symptoms. Most people with this syndrome have normal lifespans. The exact prevalence of MGS has not been determined, but is estimated to be less than 1-9/1,000,000.
OMIM :
56
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011).
(224690)
KEGG :
36
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.
UniProtKB/Swiss-Prot :
73
Meier-Gorlin syndrome 1: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.
Rare neurological diseases 
