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EEC syndrome

2 OMIM references -
1 associated gene
81 connected diseases
50 signs/symptoms

Disease	Type of connection
Split hand-split foot malformation
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Limb-mammary syndrome
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
46,XY partial gonadal dysgenesis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Syndromic multisystem autoimmune disease due to Itch deficiency
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Uveal coloboma - cleft lip and palate - intellectual deficit
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
2q32q33 microdeletion syndrome
2q33.1 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Behavioral variant of frontotemporal dementia
Distal myopathy with posterior leg and anterior hand involvement
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic palmoplantar keratoderma
Familial isolated congenital asplenia
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated ATP synthase deficiency
Localized epidermolysis bullosa simplex
Muscle filaminopathy
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Translocation renal cell carcinoma
X-linked osteoporosis with fractures
Acute promyelocytic leukemia
Familial melanoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Anaplastic ependymoma
Aneurysm - osteoarthritis syndrome
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autoimmune lymphoproliferative syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive primary microcephaly
Ear-patella-short stature syndrome
Ewing sarcoma
Familial prostate cancer
Familial thoracic aortic aneurysm and aortic dissection
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Peutz-Jeghers syndrome
Primary peritoneal carcinoma
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Meacham syndrome
Nephroblastoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome

Synonym(s): - Ectrodactyly - ectodermal dysplasia - cleft lip/palate

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 (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		External references: 2 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
TP63	Q9H3D4	603273

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

- Breast tissue / mammary gland absence / aplasia
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Fine hair
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphoma
- Mouth dryness / xerostomia
- Proximally set thumb
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- 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