Eec syndrome Q18.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Ectrodactyly Ectodermal Dysplasia-Cheilognathopalatoschisis Syndrome; MIM 12900; Rüdiger's Syndrome

History
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Walker and Clodius 1963; Rüdiger, 1970

Definition
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Rare, severe, congenital, ectodermal dysplasia syndrome with, among other things, congenital absence of fingers or toes (split hand/foot = ectrodactyly), cleft palate and ectodermal dysplasia.

Etiopathogenesis
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Mostly autosomal-dominantly inherited mutations of the p63 gene, which are mapped on the genloci 7q11-q21.3, 7q11 and 19q S.a.u. ADULT syndrome.

Clinical features
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  • There may be considerable differences in the appearance and severity of the syndrome (slight variations to full-blown with all possible disorders).
  • Cleft palate or cleft lip and palate. Mostly cleft hand and foot. Nail dysplasia, hypoplasia of the nipples, hearing loss.
  • Eye: Atresia of the lacrimal ducts, photophobia, chronic blepharitis and conjunctivitis, dacryocystitis, blepharophimosis, blue iris (pigment deficiency).
  • Mouth: partial anodontics or microdontics, especially the septum-like development of the incisors
  • Nails: Nail syplasia
  • Hair: blond, sparse, curly; hypoplasia of eyebrows and eyelashes, atrophy
  • In later life folliculitis-decalvans-like inflammation of the scalp with consecutive scarred alopecia(pseudopelade).

Diagnosis
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Molecular genetic analysis. Thorough and careful examination of the affected persons as well as their parents and siblings.

Therapy
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Interdisciplinary approach. If necessary, surgical corrections, prophylactic examinations at the ophthalmologist, dentist etc.

Case report(s)
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Two boys and their mother were affected.

Patient 1 (12 years) had a mild bilateral syndactyly between the 3rd and 4th finger, a cleft palate which had been surgically repaired, hypodontia and enamel anomalies with pronounced caries. The hair was sparse, light and thin, the nails were thin and had transverse grooves. The skin was dry and there was a mild hypohidrosis. Due to a lacrimal duct atresia, keratoconjunctivitis occurred repeatedly. In addition there were anomalies of the genitourinary tract with hypospadias and left-sided cryptorchidism. In addition there was conductive hearing loss and a slight auricular dysplasia.

Patient 2 was his 10-year-old brother with also light hair, dental anomalies, unilateral cleft palate and a lacrimal canal atresia. The patient also had an increasing conductive hearing loss.

The 40-year-old mother suffered from a left-footed ectodactyly and an almost complete cutaneous syndactyly between the 4th and 5th finger of the right hand. The hair was also quite light, showing sparse growth. The nails were hypoplastic. Furthermore, a partial anodontia was visible, but without cleft formation. There were recurrent eye infections, because the patient also had a bilateral lacrimal duct closure, which made a corneal transplantation necessary at the age of 28 years.

All patients showed normal mental development.

Literature
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  1. Bigata X et al (2003) The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases. Pediatric dermatol 20: 113-118
  2. Glorio R et al (2003) Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. J Eur Acad Dermatol Venereol 17: 356-358
  3. Hamada T et al (2002) Common mutations in Arg 304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies. J Invest Dermatol 119: 1202-1203
  4. Rüdiger RA, Haase E, Passarge E (1970) Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate. The EEC syndrome. Am J Dis Child 120: 160-163
  5. South AP et al (2003) EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis. Br J Dermatol 146: 216-220

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020