ODCs

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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Neonatal severe primary hyperparathyroidism

1 OMIM reference -
1 associated gene
12 signs/symptoms

Frontometaphyseal dysplasia

Neonatal severe primary hyperparathyroidism

FLNA

(UniProt - OMIM)

CASR

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.89)	CASR

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Neonatal severe primary hyperparathyroidism
	Synonym(s): (no synonyms)		Synonym(s): - NSHPT

	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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Metaphyseal anomaly

Frontometaphyseal dysplasia		Neonatal severe primary hyperparathyroidism
	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 - 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 - 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 - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperparathyroidy - Hypotonia - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Phosphocalcic metabolism anomalies - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Short stature / dwarfism / nanism - Splenomegaly