ODCs

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Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

Lethal restrictive dermopathy

Osteodysplasty, Melnick-Needles type

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.73)	FLNA

Citations in the biomedical literature:

Lethal restrictive dermopathy		Osteodysplasty, Melnick-Needles type
	Synonym(s): (no synonyms)		Synonym(s): - Melnick-Needles syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant

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


COMMON SIGNS	- Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Micrognathia / retrognathia / micrognathism / retrognathism - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Stillbirth / neonatal death

Lethal restrictive dermopathy		Osteodysplasty, Melnick-Needles type
	Very frequent - Absent / decreased lashes - Anomalies of teeth and dentition - Autosomal recessive inheritance - Early death / lethality - Ectropion / entropion / eyelid eversion - External ear anomalies - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Mouth held open - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Short / small nose - 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 - 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 Occasional - Aortic root dilatation / dilation / aneurysm - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus		Very frequent - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Metaphyseal anomaly - Narrow rib cage / thorax - Prominent supraorbital ridge - Proptosis / exophthalmos - Short rib cage / thorax - Short stature / dwarfism / nanism - X-linked dominant inheritance Frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Repeat respiratory infections - Rib structure anomalies - Terminal / third phalangeal bone of fingers hypoplasia - Vesicorenal / vesicoureteral reflux Occasional - Omphalocele / exomphalos