ODCs

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Xq27.3q28 duplication syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

Xq27.3q28 duplication syndrome

Isolated Klippel-Feil syndrome

FMR1	(UniProt - OMIM)	GDF3	(UniProt - OMIM)
		GDF6	(UniProt - OMIM)
		MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FMR1	(0.63)	MEOX1

Citations in the biomedical literature:

Xq27.3q28 duplication syndrome		Isolated Klippel-Feil syndrome
	Synonym(s): - Dup(X)(q27.3q28) - Trisomy Xq27.3-q28 - Trisomy Xq27.3q28 - Xq27.3-q28 microduplication syndrome		Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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 recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Xq27.3q28 duplication syndrome		Isolated Klippel-Feil syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Late puberty / hypogonadism / hypogenitalism - Long / large / bulbous nose - Short stature / dwarfism / nanism - Small foot - Small hand / acromicria - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Thin / retracted lips - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Decreased body hair / axillar / pubic hairlessness - Delayed bone age - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Intrauterine growth retardation - Truncal obesity Occasional - Precocious menopause / secondary amenorrhea		Very frequent - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - Autosomal recessive inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Low hair line (back) - Short neck - Vertebral segmentation anomaly / hemivertebrae - Webbed neck / pterygium colli Frequent - Anomalies of the ribs - Congenital torticolli - Hearing loss / hypoacusia / deafness - Narrow / sloping shoulders - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Cranial nerve anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication