ODCs

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Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Smith-Magenis syndrome

1 OMIM reference -
2 associated genes
72 signs/symptoms

Baraitser-Winter syndrome

Smith-Magenis syndrome

ACTB	(UniProt - OMIM)		FLII	(UniProt - OMIM)
ACTG1	(UniProt - OMIM)		RAI1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTB	(0.52)	FLII

Citations in the biomedical literature:

Baraitser-Winter syndrome		Smith-Magenis syndrome
	Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome		Synonym(s): - 17p11.2 microdeletion

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: sporadic

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D058496


COMMON SIGNS	- Broad nose / nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Baraitser-Winter syndrome		Smith-Magenis syndrome
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Coarse face - Coloboma of iris - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Euryblepharon / wide palpebral fissures - High arched eyebrows - Long philtrum - Macrostomia / big mouth - Pointed chin - Prominent metopic suture - Ptosis - Short columella / depressed nasal tip - Telecanthus / canthal dystopy - Thin / retracted lips Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Heterochromia / mixed colouring of iris - Large fontanelle / delayed fontanelle closure - Long / large / bulbous nose - Low hair line (back) - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Retinoschisis / retinal / chorioretinal coloboma - Short neck - Trigonocephaly Occasional - Coloboma of the optic nerve - Puffy eyelids - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Areflexia / hyporeflexia - Auto-aggressivity / auto-mutilation - Brachycephaly / flat occiput - Broad forehead - Deepset eyes / enophthalmos - Depressed nasal bridge - Frontal bossing / prominent forehead - Generalized obesity - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Large face - Mid-facial hypoplasia / short / small midface - Respiratory-digestive intersection / aero-digestive cross-roads anomaly - Short hand / brachydactyly - Sleep and vigilance disorders - Synophris / synophrys - Taurodontia - Tented upper lip - Tics / stereotypias - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Abnormal gait - Abnormal vertebral size / shape - Anteverted nares / nostrils - Chronic / relapsing otitis - Clinodactyly of fifth finger - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Constipation - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Fetal immobility / abnormal fetal movements - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperacusia - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insensitivity to pain - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mouth held open - Myopia - Peripheral neuropathy - Prognathism / prognathia - Short philtrum - Short stature / dwarfism / nanism - Short / small nose - Strabismus / squint - Syndactyly of toes Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Ectopic / horseshoe / fused kidneys - Hypothyroidy - Late puberty / hypogonadism / hypogenitalism - Precocious puberty - Retinal detachment - Upper limb polydactyly / hexadactyly - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter