GTR Home > Conditions/Phenotypes > Meier-Gorlin syndrome


The Meier-Gorlin syndrome is a rare autosomal recessive 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). Genetic Heterogeneity of Meier-Gorlin Syndrome Also see Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q22; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q12; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q; and Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21. [from OMIM]

Available tests

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Associated genes

Clinical features

  • Small for gestational age
  • Strabismus
  • Short palpebral fissure
  • Thin skin
  • Hyperconvex nail
  • Hooked clavicles
  • Thin ribs
  • Small hand
  • Breech presentation
  • Clitoromegaly
  • Talipes equinovarus
  • Intellectual disability
  • Microcephaly
  • Birth length less than 3rd percentile
  • Hypoplastic labia minora
  • Microdontia
  • Intrauterine growth retardation
  • Long eyelashes
  • Flat glenoid fossa
  • Incomplete partition of the cochlea type II
  • Absent sternal ossification
  • Shawl scrotum
  • Small anterior fontanelle
  • Microtia
  • Micrognathia
  • Cleft palate
  • Failure to thrive
  • Feeding difficulties in infancy
  • Cryptorchidism
  • Micropenis
  • Hypoplastic labia majora
  • Narrow mouth
  • Thick lower lip vermilion
  • High palate
  • Hypoplasia of the maxilla
  • Hearing impairment
  • Low-set ears
  • Atresia of the external auditory canal
  • Blepharophimosis
  • Pectus carinatum
  • Short ribs
  • Joint laxity
  • Frontal bossing
  • Gastroesophageal reflux
  • Respiratory distress
  • Abnormality of pelvic girdle bone morphology
  • Delayed skeletal maturation
  • Genu valgum
  • Hemivertebrae
  • Genu varum
  • Elbow dislocation
  • Slender long bone
  • Breast hypoplasia
  • Clinodactyly of the 5th finger
  • Short palm
  • Aplasia/Hypoplasia of the patella
  • Absent glenoid fossa
  • Joint contracture of the hand
  • Cutaneous finger syndactyly
  • Camptodactyly
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