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Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

Greenberg dysplasia

Lethal restrictive dermopathy

LBR	(UniProt - OMIM)		LMNA	(UniProt - OMIM)
			ZMPSTE24	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LBR	(0.49)	LMNA

Citations in the biomedical literature:

Greenberg dysplasia		Lethal restrictive dermopathy
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): (no synonyms)

	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: before age 5 Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal recessive inheritance - Micrognathia / retrognathia / micrognathism / retrognathism

Greenberg dysplasia		Lethal restrictive dermopathy
	Very frequent - Abnormal vertebral size / shape - 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 - Absent / decreased lashes - Anomalies of teeth and dentition - Early death / lethality - Ectropion / entropion / eyelid eversion - External ear anomalies - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Mouth held open - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Short / small nose - Stillbirth / neonatal death - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity Frequent - Adrenal glands anomalies - Anomalies of chest / thorax / trunk - Anomalies of eyelids, eyelashes and lacrimal system - Atrial septal defect / interauricular communication - Bladder and ureter anomalies - Blepharophimosis / short palpebral fissures - Clavicle absent / abnormal - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Complete claw hand / camptodactyly of all fingers - Diaphyseal anomaly - Eyebrows anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypospadias / epispadias / bent penis - Kyphosis - Lanugo - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Patent ductus arteriosus - Polyhydramnios - Scoliosis Occasional - Aortic root dilatation / dilation / aneurysm - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus