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Ankyloblepharon - ectodermal defects - cleft lip/palate

1 OMIM reference -
1 associated gene
81 connected diseases
29 signs/symptoms

Disease	Type of connection
Split hand-split foot malformation
ADULT syndrome
Bladder exstrophy
EEC syndrome
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): - AEC syndrome - Hay-Wells 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 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: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
TP63	Q9H3D4	603273

Very frequent

- Autosomal dominant inheritance
- Broad nose / nasal bridge
- Coarse / thick hair
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lateral cleft lip / gingival cleft / paramedian nasal cleft

Frequent

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Enamel anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Palmoplantar hyperkeratosis / keratoderma
- Tooth shape anomaly

Occasional

- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Conductive deafness / hearing loss
- Defect / anomaly of lacrimal system
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Prominent / bat ears
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Ventricular septal defect / interventricular communication