ODCs

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Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Microphthalmia with limb anomalies

1 OMIM reference -
2 associated genes
37 signs/symptoms

Greenberg dysplasia

Microphthalmia with limb anomalies

LBR	(UniProt - OMIM)		FNBP4	(UniProt - OMIM)
			SMOC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LBR	(0.85)	FNBP4

Citations in the biomedical literature:

Greenberg dysplasia		Microphthalmia with limb anomalies
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): - Anophthalmia-syndactyly syndrome - OAS - Ophthalmoacromelic syndrome - Waardenburg anophthalmia syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537299		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal recessive inheritance - Micrognathia / retrognathia / micrognathism / retrognathism

Greenberg dysplasia		Microphthalmia with limb anomalies
	Very frequent - Abnormal / absent ossification - Lymphedema - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Red cell disorders - Rhizomelic micromelia - Rib structure anomalies - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Poorly ossified skull / calvarium - Scalp / skull defect		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Eyebrows anomalies - Frontal bossing / prominent forehead - Lower limb segmental anomalies - Metacarpal anomalies / Archibald's sign - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Synostosis - Upper limb segmental anomalies - Wide space between 1st-2nd toes Frequent - Bone / osseous hypoplasia - Cleft lip - Clinodactyly of fifth finger - Failure to thrive / difficulties for feeding in infancy / growth delay - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Oligodactyly / ectrodactyly of fingers - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Upper limb polydactyly / hexadactyly Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed premaxillary region / midface - Ectopic / horseshoe / fused kidneys - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Postaxial polydactyly of toes / fifth supernumerary toe - Talipes-valgus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Varices / varicous veins / venous insufficiency