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2 OMIM references -
1 associated gene
50 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Ear-patella-short stature syndrome

5 OMIM references -
5 associated genes
35 signs/symptoms

EEC syndrome

Ear-patella-short stature syndrome

TP63	(UniProt - OMIM)		CDC6	(UniProt - OMIM)
			CDT1	(UniProt - OMIM)
			ORC1	(UniProt - OMIM)
			ORC4	(UniProt - OMIM)
			ORC6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.63)	CDT1

Citations in the biomedical literature:

EEC syndrome		Ear-patella-short stature syndrome
	Synonym(s): - Ectrodactyly - ectodermal dysplasia - cleft lip/palate		Synonym(s): - Meier-Gorlin syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: C538012


COMMON SIGNS	- Breast tissue / mammary gland absence / aplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism

EEC syndrome		Ear-patella-short stature syndrome
	Very frequent - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance - Coarse / thick hair - Complete / partial microdontia - Defect / anomaly of lacrimal system - Dry / squaly skin / exfoliation - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Multiple caries - Oligodactyly / ectrodactyly of fingers - Oligodactyly / ectrodactyly of toes - Taurodontia - Thick / bushy eyebrows Frequent - Agenesis / hypoplasia / aplasia of kidneys - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cleft lip and palate - Corneal ulceration / perforation - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Photophobia - Skin hypoplasia / aplasia / atrophy - slow growth of the hair - Urethral anomalies / stenosis / posterior urethral valves / megalocystis Occasional - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Choanal atresia - Ectropion / entropion / eyelid eversion - External ear anomalies - Fine hair - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypoplastic / absent nipples - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Lymphoma - Mouth dryness / xerostomia - Proximally set thumb - Sensorineural deafness / hearing loss - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Structural anomalies of middle ear / ossicles / tympanic cavity - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thumb hypoplasia / aplasia / absence - Thymic aplasia / hypoplasia - Vesicorenal / vesicoureteral reflux		Very frequent - Autosomal recessive inheritance - Delayed bone age - Epiphyseal anomaly - External auditory canal atresia / stenosis / agenesis - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Camptodactyly of fingers - Clavicle absent / abnormal - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Craniostenosis / craniosynostosis / sutural synostosis - Female pseudohermaphrodism / virilisation / clitoridomegaly - High vaulted / narrow palate - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Patella absent / abnormal (excluding luxation) - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib structure anomalies Occasional - Elbow dislocation - Hearing loss / hypoacusia / deafness - Micropenis / small penis / agenesis - Thick lips