ODCs

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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 8

Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

Hutchinson-Gilford progeria syndrome

Lethal restrictive dermopathy

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


COMMON GENES	LMNA ZMPSTE24

Citations in the biomedical literature:

Hutchinson-Gilford progeria syndrome		Lethal restrictive dermopathy
	Synonym(s): - Progeria		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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 dominant		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: D011371		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Clavicle absent / abnormal - Early death / lethality - External ear anomalies - Large fontanelle / delayed fontanelle closure - Micrognathia / retrognathia / micrognathism / retrognathism - Tight skin / lack of elasticity

Hutchinson-Gilford progeria syndrome		Lethal restrictive dermopathy
	Very frequent - Abnormal fat distribution / lipodystrophy - Alopecia - Anodontia / oligodontia / hypodontia - Asthenia / fatigue / weakness - Decreased body hair / axillar / pubic hairlessness - Delayed dentition / eruption of teeth / lack of eruption of teeth - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Late puberty / hypogonadism / hypogenitalism - Narrow face - Premature ageing - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Skull / cranial anomalies - Terminal / third phalangeal bone of fingers hypoplasia - Thin skin - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal gait - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Angor pectoris / myocardial infarction - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Beaked nose - Global upper and lower limbs anomalies - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rippled skin - Thin / retracted lips Occasional - Articular / joint pain / arthralgia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Nephrosclerosis		Very frequent - Absent / decreased lashes - Autosomal recessive inheritance - Ectropion / entropion / eyelid eversion - Hypoplastic lungs / pulmonary hypoplasia / agenesis - 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 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 - 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