Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal. Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome is a rare form of ectodermal dysplasia, an autosomal. Disease definition. EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/ palate).
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CC HPO: Specific genitourinary anomalies were found. A presenting problem in the proband at the age of 4 months involved micturition which required an effort and seemed painful.
Cystoscopy showed a distal stricture of the urethra requiring internal urethrotomy and repeated dilatation of the urethra. Abnormally thin bladder epithelium was thought to be an explanation for the continuing complaints.
A trial with a synthetic dysplasia-cleftiny glycosaminoglycan resulted in remarkable improvement with almost complete disappearance of complaints. The elder sister had similar complaints of burning sensation in the bladder without urinary tract infection. Biopsies of the bladder demonstrated very thin atrophic bladder epithelium. Similar remarkable improvement was achieved with the use of the synthetic sulfonated glycosaminoglycan. Twelve newly affected individuals were identified, with marked phenotypic variability.
One individual had features of the AEC syndrome Features of ectodermal dysplasia were also variable. Most had blonde, sparse hair with slow growth, thin nails, periorbital hyperpigmentation, dysplasia-cleftting dental caries. Four had hypodontia, and 8 were edentulous on examination. Most notable, 12 of those affected had micturition difficulties, which tended to improve with age, and 1 had defecation difficulties.
He had underdevelopment of the central digital rays of both hands and feet, sparse hair, and thin and dry skin. Genetic analysis identified a heterozygous mutation in the p63 gene RW; His father, who was found to be somatic mosaic for the mutation, had split hand-foot malformation, no cleft lip or palate, and whorl-like streaky pigmentary patterns of the skin following Blaschko lines.
He had gray hair on the right half of his scalp and brown thin hair on the left side. He also had enamel hypoplasia and partial adontia.
Extensive genetic analysis demonstrated that the father was ectrodactyly-rctodermal for the mutation in peripheral blood and hair, although most of his sperm carried the mutation. The 4-year-old daughter had dry and sparse dark hair, left cleft lip and palate, depressed nasal bridge, slightly dry skin, and thin nails. She had split hands and split right foot, as well as syndactyly of the right fourth and fifth toes. Her father had normal dark hair, dry skin, split right hand, bifid right thumb, and flexion contracture of the distal phalanx of the left index finger.
His second toes were small and slender, and he had underdeveloped toenails. The father had significant dental involvement, with enamel ectrodwctyly-ectodermal, extensive dental caries, hypodontia of the mandibular canines, generalized microdontia, prominent marginal ridges of permanent maxillary incisors, round-shaped permanent molars, and barrel-shaped permanent maxillary central incisors.
Both patients had normal nipples and no micturition problems.
The first patient was evaluated at 4 years of age for dysuria and straining on micturition and was found to have a small urethral meatal orifice, dilated urethra, and flaccid megacystis. He later developed a bladder diverticulum and required self-catheterization as treatment for his bladder dysfunction. The second patient had hydronephrosis prenatally, a bladder diverticulum, and urethral stenosis. By age 2 years, he had developed ureteral dilation that progressively worsened, eventually requiring tapering and reimplantation of his ureters.
He had increased residual bladder volumes after surgery, but had not required self-catheterization. Both patients had typical features of EEC3 such as cleft palate, lacrimal duct abnormalities, microdontia, and sparse, blonde hair. Neither patient had severe limb defects; the first patient was missing only the distal phalange of the third digit on one hand, and the second patient had only cutaneous syndactyly of the second and third toes.
Ectrodactyly – ectodermal dysplasia – cleft lip/palate syndrome: a rare entity
Positive lod scores were obtained with markers from within the LMS interval for each of these families. The added Zmax across these families was 8. Recombination events were observed between markers that define the LMS interval, D3S and D3S, and the disease locus, indicating that these 5 EEC syndrome families map to the same 3-cM region of dysolasia-clefting that had been found for the LMS family reported by van Bokhoven et al.
This colocalization and the overlapping clinical features of these disorders strongly suggested that the same gene is involved in this form of EEC syndrome EEC3 and LMS. Eight dysplsaia-clefting resulted in amino acid substitutions that were predicted to abolish the DNA binding capacity of p63 see, e.
Transactivation studies with these mutant p63 isotypes provided a molecular explanation for the dominant character of p63 mutations in EEC3. The RH mutation was also identified in a year-old female with features consistent with Rapp-Hodgkin syndrome see and Bougeard et al.
They speculated that p63 may exert a biologic function as a tumor suppressor and suggested that malignant lymphoma should be considered an important complication of EEC3, inasmuch as 2 previous reports had also documented an association of EEC syndrome with malignant lymphoma Gershoni-Baruch et dysplawia-clefting.
In affected members of 3 unrelated families, 2 previously studied by O’Quinn et al. In the Dutch family reported by Maas et al. However, van Bokhoven et al. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency.
Split hand foot malformation with whorl-like pigmentary pattern: EEC syndrome and genitourinary anomalies: EEC syndrome, argto-gln TP63 mutation and micturition difficulties: Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to ectrodactyly-etcodermal Non-Hodgkin’s lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. Phenotypic ectrodsctyly-ectodermal of arg mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.
A number sign is used with this entry because EEC syndrome-3 EEC3 is caused by heterozygous mutation in the gene encoding p63 TP63; on chromosome 3q A bonus to all MIMmatch users is sydrome option to sign up for updates on new gene-phenotype relationships. Clinical Synopsis Toggle Dropdown. CC ]. Also see EEC1which has been mapped to chromosome 7q Isum Ward – updated: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
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Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)
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