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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

COMMON GENES: 1

Congenital short bowel syndrome

2 OMIM references -
2 associated genes
8 signs/symptoms

Frontometaphyseal dysplasia

Congenital short bowel syndrome

FLNA	(UniProt - OMIM)		CLMP	(UniProt - OMIM)
			FLNA	(UniProt - OMIM)


COMMON GENES	FLNA

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Congenital short bowel 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 gastroenterologic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: 2 OMIM references - No MeSH references

Frontometaphyseal dysplasia		Congenital short bowel 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 - Hypertelorism - 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 - 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 - Short bowel Frequent - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal / gut / bowel malrotation - Lipoatrophy - Short stature / dwarfism / nanism - Stillbirth / neonatal death Occasional - Hypospadias / epispadias / bent penis