ODCs

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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

Frontometaphyseal dysplasia

Mandibuloacral dysplasia with type A lipodystrophy

FLNA

(UniProt - OMIM)

LMNA

(UniProt - OMIM)


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

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Mandibuloacral dysplasia with type A lipodystrophy

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

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- High vaulted / narrow palate - Restricted joint mobility / joint stiffness / ankylosis

Frontometaphyseal dysplasia		Mandibuloacral dysplasia with type A lipodystrophy
	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 - Hypertelorism - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - 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 - 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 - Autosomal dominant inheritance - 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 - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - 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 - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Autosomal recessive inheritance - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - Hypotonia - Muscle anomalies - Tight skin / lack of elasticity