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EEC syndrome
2 OMIM references -
1 associated gene
50 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
2q32q33 microdeletion syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
EEC syndrome
2q32q33 microdeletion syndrome

TP63
(UniProt - OMIM)
 SATB2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP63
(0.73)
SATB2


Citations in the biomedical literature:


EEC syndrome
TP63
2q32q33 microdeletion syndrome
SATB2



EEC syndrome
2q32q33 microdeletion syndrome

Synonym(s):
- Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Synonym(s):
- 2q32-q33 microdeletion syndrome
- Del(2)(q32)
- Del(2)(q32q33)
- Monosomy 2q32
- Monosomy 2q32-q33
- Monosomy 2q32q33
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 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: 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: sporadic
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Anodontia / oligodontia / hypodontia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Fine hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism

EEC syndrome
2q32q33 microdeletion syndrome

Very frequent
- Absent / decreased / thin eyebrows
- 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
- Breast tissue / mammary gland absence / aplasia
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Choanal atresia
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- 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
- Insterstitial / subtelomeric microdeletion / deletion
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- High nasal bridge
- High vaulted / narrow palate
- Hypotonia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Thin / retracted lips
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Anteverted nares / nostrils
- Autism / autistic disoders
- Beaked nose
- Brachycephaly / flat occiput
- Broad / bifid big toe
- Broad / bifid thumb
- Clinodactyly of fifth finger
- Clinodactyly of toes
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long face
- Long hand / arachnodactyly
- Long philtrum
- Microcephaly
- Microstomia / little mouth
- Sleep and vigilance disorders
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Strabismus / squint
- Talipes-varus / metatarsal varus