EEC syndrome

EEC syndrome

Description

The EEC syndrome is characterised by ectrodactyly, ectodermal dysplasia and facial clefting. Incomplete forms and significant variability in expression can be seen in both sporadic and familial cases. Mode of inheritance: sporadic; autosomal dominant Type: non-lethal Synonyms: Ectrodactyly-ectodermal dysplasia, cleft lip/palate syndrome; Rudiger syndrome; EECUT syndrome

Diagnosis

Facial abnormalities include hypertelorism, cleft lip and palate, midfacial hypoplasia, dental anomalies, and lacrimal gland or duct atresia. Hand and feet abnormalities range from hypoplastic nails to polydactyly, syndactyly and lobster claw-deformity. The carpal, tarsal, metacarpal or metatarsal bones can be dysplastic or absent. Absent or abnormal digit posture is very common. The defects are not always bilaterally symmetric. Renal anomalies are a common associated finding. Superficial features of the ectodermal dysplasia include sparse scalp hair, albinoid changes in the skin, pigmented lesions, absence or reduction of the sebaceous glands and nail abnormalities. Other anomalies such as microcephaly, mental retardation, conduction deafness, inguinal hernias and cryptorchidism have been reported. Chromosomal analysis is recommended, since various translocations have been documented in several cases.

Differential Diagnosis

The ECP, Fontaine and Weyer oligodactyly syndromes lack the ectodermal component; a prenatal distinction is not possible at present. In Familial ectrodactyly there is no facial clefting nor ectodermal defects. The Oro-facio-digital syndromes I and II may feature facial clefts and digit abnormalities, but these do not include hand or feet defects with absence of metacarpal or metatarsal bones; there is no ectodermal dysplasia. Roberts syndrome may be differentiated on the basis of the reduction limb abnormalities present. There are also a variety of disorders that feature ectodermal dysplasia with either ectrodactyly or cleft lip/palate.

Sonographic Features

Hypertelorism

Cleft lip/palate

Lobster-claw deformity of hands and feet

Polydactyly, syndactyly, clinodactyly

Different patterns of absence or hypoplasia of some metacarpals or metatarsals

Genitourinary anomalies (renal agenesis, hydronephrosis)

Associated Syndromes

  • None

References

  1. Akita S, Kuratomi H, Abe K, Harada N, Mukae N, Niikawa N EEC syndrome in a girl with paracentric inversion Clin Dysmorphol 2: 62-67
  2. Aneren G, Andersson T, Lindgren PG, Kjartansson S Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis Clin Genet 40: 257-262
  3. Bronshtein M, Gershoni-Baruch R Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome Prenat Diag 13: 519-522