EEC syndrome
Overview
Ectodactyly, Ectodermal dysplasia, Clefting Syndrome also known as EEC syndrome is a rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
Symptoms
- Fair skin
- Thin skin
- Hyperkeratosis
- Undeveloped nipples
- Light-colored hair
- Sparse hair
- Thin hair
- Wiry hair
- Distorted hair bulb
- Longitudinal grooves of hair shaft
- Missing teeth
- Small teeth
- Dental caries
- Blue eyes
- Photophobia
- Blepharophimosis
- Lacrimal duct system defects
- Maxillary hypoplasia
- Malar hypoplasia
- Nail dysplasia
- Missing toes
- Missing fingers
- Syndactyly
- Megaureter
- Vesicoureteral reflux
- Ureterocele
- Bladder diverticuli
- Renal agenesis
- Renal dysplasia
- Hydronephrosis
- Small penis
- Undescended testes
- Transverse vaginal septum
- Small head
- Dysmorphism
- Malformed ears
- Blepharitis
- Underdeveloped tooth enamel
- Furrowed tongue
- Rectal atresia
- Urinary abnormalities
- Mental retardation
- Breathy voice
- Deafness
Causes
This form of ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, designated EEC1, has been linked to chromosome 7q11.2-q21.3. Another form of the disorder, designated EEC3 (604292), is caused by mutation in the TP63 gene (603273).