ODCs

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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Axenfeld-Rieger syndrome

3 OMIM references -
2 associated genes
22 signs/symptoms

Frontometaphyseal dysplasia

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:

Frontometaphyseal dysplasia		Axenfeld-Rieger syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Axenfeld syndrome - Rieger syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: neonatal/infancy 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 - 1 MeSH reference: C538064		External references: 3 OMIM references - 1 MeSH reference: C535679


COMMON SIGNS	- Autosomal dominant inheritance - Hypertelorism

Frontometaphyseal dysplasia		Axenfeld-Rieger syndrome
	Very frequent - Bowed diaphysis / diaphyses / long bones - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Diaphyseal anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal sinus agenesis / anomaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Tooth shape anomaly - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Advanced bone age - Carpal bones fusion / synostosis - Conductive deafness / hearing loss - Elbow dislocation - High vaulted / narrow palate - Long hand / arachnodactyly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Scoliosis - Sensorineural deafness / hearing loss - Thumb hypoplasia / aplasia / absence - Ulnar deviation of fingers Occasional - Atrioventricular canal - Craniostenosis / craniosynostosis / sutural synostosis - Larynx / laryngeal stenosis / atresia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Tracheal atresia / stenosis - Ureteral stenosis / narrowing - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Embryotoxon Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Everted lower lip - Glaucoma - Hearing loss / hypoacusia / deafness - Mid-facial hypoplasia / short / small midface Occasional - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Complete / partial microdontia - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - 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