Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV000190455 | SCV000189629 | pathogenic | Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 2014-02-11 | criteria provided, single submitter | research | The proband presents with EEC syndrome. Since the proband’s son does not have cleft lip/palate, his phenotype is similar to that of ADULT syndrome, which may not include clefting, breast hipoplasia or freckling. This clinical overlap could demonstrate that the distinctions between EEC and ADULT syndromes are somewhat artificial. The father of the proband allegedly presented only SHFM, without other manifestations. This could indicate that the mutation c.1037C>G might also be associated with nonsyndromic SHFM. |