ODCs

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Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Axenfeld-Rieger syndrome

3 OMIM references -
2 associated genes
22 signs/symptoms

Osteodysplasty, Melnick-Needles type

Axenfeld-Rieger syndrome

FLNA	(UniProt - OMIM)		FOXC1	(UniProt - OMIM)
			PITX2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.75)	FOXC1

Citations in the biomedical literature:

Osteodysplasty, Melnick-Needles type		Axenfeld-Rieger syndrome
	Synonym(s): - Melnick-Needles syndrome		Synonym(s): - Axenfeld syndrome - Rieger syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - 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: childhood Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C535679


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hypertelorism

Osteodysplasty, Melnick-Needles type		Axenfeld-Rieger syndrome
	Very frequent - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - 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 - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Clavicle absent / abnormal - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - 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 - Scoliosis - Terminal / third phalangeal bone of fingers hypoplasia - Vesicorenal / vesicoureteral reflux Occasional - Omphalocele / exomphalos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Autosomal dominant inheritance - Embryotoxon Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Everted lower lip - Glaucoma - Mid-facial hypoplasia / short / small midface Occasional - Broad nose / nasal bridge - Complete / partial microdontia - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypospadias / epispadias / bent penis - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Loose skin / skin relaxation / excess skin / creases - Telecanthus / canthal dystopy