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LEOPARD syndrome

3 OMIM references -
3 associated genes
47 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 8

Costello syndrome

1 OMIM reference -
2 associated genes
46 signs/symptoms

LEOPARD syndrome

Costello syndrome

BRAF	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
PTPN11	(UniProt - OMIM)		KRAS	(UniProt - OMIM)
RAF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAF1 RAF1 BRAF	(0.99) (0.99) (0.78)	HRAS KRAS HRAS

Citations in the biomedical literature:

LEOPARD syndrome		Costello syndrome
	Synonym(s): - Cardiomyopathic lentiginosis - Familial multiple lentigines syndrome		Synonym(s): - FCS syndrome - Faciocutaneoskeletal syndrome - Intellectual deficit - nasal papillomata

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic 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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 2 MeSH references: C537116 / D044542		External references: 1 OMIM reference - 1 MeSH reference: D056685


COMMON SIGNS	- Cardiomyopathy / hypertrophic / dilated - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pulmonary valve atresia / stenosis / narrowing - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes

LEOPARD syndrome		Costello syndrome
	Very frequent - Autosomal dominant inheritance - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac rhythm disorder / arrhythmia - Excessive freckling - Hyperelastic skin / cutaneous hyperlaxity - Hypertelorism - Intrauterine growth retardation - Myelodysplastic syndrome - Pigmented naevi / naevus pigmentosus / lentigo - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Sensorineural deafness / hearing loss - Structural anomalies of the genital system Frequent - Anomalies of ear and hearing - Atrioventricular canal - Broad nose / nasal bridge - Congenital cardiac anomaly / malformation / cardiopathy - Face / facial anomalies - Pectus carinatum - Pectus excavatum - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Sterility / hypofertility - Webbed neck / pterygium colli Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Absent / hypotonic / flaccid abdominal wall muscles - Angor pectoris / myocardial infarction - Arterial aneurism (excluding aorta) - Brachycephaly / flat occiput - Ectopic / horseshoe / fused kidneys - Endocardium anomalies / fibroelastosis / endocarditis - Hypospadias / epispadias / bent penis - Melanoma - Myeloproliferative syndrome / chronic leukemia - Neuroblastoma - Rippled skin - Scoliosis - Spina bifida occulta - Subcutaneous nodules / lipomas / tumefaction / swelling - Triangular face		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 - Short neck - 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 - 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 - Polyhydramnios - Strabismus / squint - Tendon rupture / tendinitis / bursitis / tenosynovitis - Thick lips - Thin / hypoplastic toenails - Ulnar deviation of fingers - Warts / papillomas Occasional - Coarse face - Diffuse / generalised skin hyperpigmentation / melanoderma - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hair and scalp anomalies - Large face - Thick / wide ear lobe