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Greenberg dysplasia

1 OMIM reference -
1 associated gene
39 connected diseases
16 signs/symptoms

Disease	Type of connection
Reynolds syndrome
Microphthalmia with limb anomalies
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Autosomal agammaglobulinemia
Brugada syndrome
Burkitt lymphoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 19 / 22
Young adult-onset Parkinsonism
Adult-onset autosomal dominant leukodystrophy
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, KÃ¶bberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Richieri Costa-Pereira syndrome

Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type

Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		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		External references: 1 OMIM reference - 1 MeSH reference: C537299

Gene symbol	UniProt reference	OMIM reference
LBR	Q14739	600024

Very frequent

- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- 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
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Poorly ossified skull / calvarium
- Scalp / skull defect