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Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 2

Costello syndrome

1 OMIM reference -
2 associated genes
46 signs/symptoms

Linear nevus sebaceus syndrome

Costello syndrome

HRAS	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
KRAS	(UniProt - OMIM)		KRAS	(UniProt - OMIM)


COMMON GENES	HRAS KRAS

Citations in the biomedical literature:

Linear nevus sebaceus syndrome		Costello syndrome
	Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome		Synonym(s): - FCS syndrome - Faciocutaneoskeletal syndrome - Intellectual deficit - nasal papillomata

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056685


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability

Linear nevus sebaceus syndrome		Costello syndrome
	Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Cavernous / tuberous hemangioma - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Frontal bossing / prominent forehead - Genu recurvatum - Hypereflexia - Hypotonia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Narrow forehead - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of eyes and vision - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Irregular / in bands / reticular skin hyperpigmentation - Plagiocephaly - Porencephaly Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Intracranial / cerebral calcifications		Very frequent - Acanthosis nigricans - Anomalies of skin, subcutaneous tissue and mucosae - Antenatal exposure : alcohol - Delayed bone age - Depressed nasal bridge - Enamel anomaly - High vaulted / narrow palate - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pulmonary valve atresia / stenosis / narrowing - Short neck - Short stature / dwarfism / nanism - Thin / hypoplastic / hyperconvex fingernails - Tight skin / lack of elasticity - Ventricular septal defect / interventricular communication - Woolly / frizzy hair Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal dermatoglyphics - Broad cheeks / cherub-like / cherubin face - Cardiomyopathy / hypertrophic / dilated - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Epicanthic folds - Excess nuchal skin without pterygium colli - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperextensible joints / articular hyperlaxity - Keratoconus / keratoglobus - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Polyhydramnios - Strabismus / squint - Tendon rupture / tendinitis / bursitis / tenosynovitis - Thick lips - Thin / hypoplastic toenails - Ulnar deviation of fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes - Warts / papillomas Occasional - Coarse face - Diffuse / generalised skin hyperpigmentation / melanoderma - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hair and scalp anomalies - Large face - Low set ears / posteriorly rotated ears - Thick / wide ear lobe