ODCs

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Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

Lethal restrictive dermopathy

Mandibuloacral dysplasia with type A lipodystrophy

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


COMMON GENES	LMNA

Citations in the biomedical literature:

Lethal restrictive dermopathy		Mandibuloacral dysplasia with type A lipodystrophy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin 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: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Autosomal recessive inheritance - Clavicle absent / abnormal - Eyebrows anomalies - Large fontanelle / delayed fontanelle closure - Restricted joint mobility / joint stiffness / ankylosis - Tight skin / lack of elasticity

Lethal restrictive dermopathy		Mandibuloacral dysplasia with type A lipodystrophy
	Very frequent - Absent / decreased lashes - Early death / lethality - Ectropion / entropion / eyelid eversion - External ear anomalies - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Mouth held open - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rough trabeculation of bone - Short / small nose - Stillbirth / neonatal death - Thick skin / pachydermia / orange skin Frequent - Adrenal glands anomalies - Anomalies of chest / thorax / trunk - Atrial septal defect / interauricular communication - Bladder and ureter anomalies - Blepharophimosis / short palpebral fissures - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Complete claw hand / camptodactyly of all fingers - Diaphyseal anomaly - 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		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Articular / joint pain / arthralgia - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypotonia - Muscle anomalies