ODCs

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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 10

Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

Frontometaphyseal dysplasia

Osteodysplasty, Melnick-Needles type

FLNA

(UniProt - OMIM)

FLNA

(UniProt - OMIM)


COMMON GENES	FLNA

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Osteodysplasty, Melnick-Needles type
	Synonym(s): (no synonyms)		Synonym(s): - Melnick-Needles syndrome

	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 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: - Type of inheritance: x-linked 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 - 1 MeSH reference: C538064		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Bowed diaphysis / diaphyses / long bones - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hypertelorism - Long hand / arachnodactyly - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Scoliosis

Frontometaphyseal dysplasia		Osteodysplasty, Melnick-Needles type
	Very frequent - Camptodactyly of fingers - Diaphyseal anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal sinus agenesis / anomaly - Restricted joint mobility / joint stiffness / ankylosis - Tooth shape anomaly - X-linked recessive inheritance Frequent - Advanced bone age - Carpal bones fusion / synostosis - Conductive deafness / hearing loss - Elbow dislocation - High vaulted / narrow palate - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - 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 - Tracheal atresia / stenosis - Ureteral stenosis / narrowing - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		Very frequent - 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 - Narrow rib cage / thorax - Proptosis / exophthalmos - Short rib cage / thorax - Short stature / dwarfism / nanism - X-linked dominant inheritance Frequent - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Clavicle absent / abnormal - 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 - 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 - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death