It has also been called the ear-patella-short stature syndrome [Boles et al., 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. [ncbi.nlm.nih.gov]

Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clinical Dysmorphology, 3 (3), pp. 207-14. Boles RG, et al. Further Delineation of the Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome). [unboundmedicine.com]

Am JMed Genet 64:447452.Boles RG, Teebi AS, Schwartz D, Harper JF (1994): Further delineation ofthe ear, patella, short stature syndrome (Meier-Gorlin syndrome). [documents.tips]

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. Am J Med Genet. 1999;84:61-67. Teebi AS, Gorlin RJ. Not a new Seckel-like syndrome but ear-patella-short stature syndrome. Am J Med Genet. 1997;70:454. [rarediseases.org]

difficulties ; Global developmental delay ; Hearing impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth [mousephenotype.org]

Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. [hekim.org]

difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep [se-atlas.de]

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. [uniprot.org]

In addition, characteristic features of the head and face may be present including a small mouth (microstomia), with full lips, small circumference of the head (microcephaly), and/or underdevelopment (hypoplasia) of the upper (maxillary) and/or lower [hekim.org]

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. [ghr.nlm.nih.gov]

Furthermore, patients with MGS have a recognizable facial phenotype with microstomia, full lips and retro-/micrognathia at young age (Fig. 1 ). The nose can be narrow and convex with a high nasal bridge. [ojrd.biomedcentral.com]

impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth retardation ; Joint hyperflexibility ; Low-set ears [mousephenotype.org]

[…] delay ; Hearing impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth retardation ; Joint hyperflexibility ; Low-set [mousephenotype.org]

[…] symbols: HSORC1, ORC1L, PARC1 ), GMNN (Withdrawn symbols: Gem ), CDC45 (Withdrawn symbols: CDC45L, CDC45L2 ), ORC4 (Withdrawn symbols: HsORC4, ORC4L, Orc4p ), CDT1 (Withdrawn symbols: DUP, RIS2 ), CDC6 (Withdrawn symbols: CDC18L ), ORC6 (Withdrawn symbols [mousephenotype.org]

Phenotypes Abnormality of epiphysis morphology ; Abnormality of the ribs ; Anotia ; Aplastic clavicle ; Atresia of the external auditory canal ; Bifid uvula ; Breast aplasia ; Camptodactyly of finger ; Clinodactyly of the 5th finger ; Clitoral hypertrophy ; Clitoral [mousephenotype.org]

Clitoromegaly was found in two of the four re-ported cases, while in the other two, information wasnot available. Prominent eyes were noted in the Boleset al. [1996] cases. [documents.tips]

Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures. [isabellasbigdreams.co.uk]

A delayed bone age and genu recurvatum are often seen in patients with MGS. Joint contractures, including club feet, were present in 23 % (7/30) of patients. Not much is known about the reproduction of patients with MGS. [ojrd.biomedcentral.com]