Acrocephalopolydactylous Dysplasia
Description
Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).
Clinical FeaturesElejalde et al. (1977) described 2 sibs, born to consanguineous parents, who showed excessive birth weight, a swollen globular body with thick skin, apparently short limbs, polydactyly, craniosynostosis with acrocephaly, omphalocele, and abnormal face. Autopsy documented abdominal organomegaly, ascites, and cystic renal dysplasia, with excessive amounts of connective tissue and perivascular proliferation of nerve fibers in many organs.
Lurie et al. (1991) described an infant with acrocephaly, a large cavernous lymphangioma of the neck, postaxial polydactyly, cystic renal dysplasia, and severe hypoplasia of the small intestine and colon. Polysplenia was present, the right lung was hypoplastic, and a left lung sequestrum was located on the diaphragm. Lurie et al. (1991) reviewed cerebrorenodigital syndromes, of which 19 were considered to be autosomal recessive.
Nevin et al. (1994) reported an 18-week-old fetus with craniosynostosis, gross edema, short limbs, postaxial polydactyly, redundant connective tissue, and cystic renal dysplasia consistent with a diagnosis of Elejalde syndrome.
Thornton and Stewart (1997) described another example of this disorder in a child born of nonconsanguineous parents. The mother developed marked polyhydramnios, and ultrasound scan showed a large-for-date fetus with probable hydrops fetalis, cystic hygroma, and omphalocele. The infant was born at 24-weeks' gestation but died after 2 hours. The infant weighed 1,500 g and the placenta 390 g, both almost twice the expected weight for the gestational age. The skin was thick, shiny, and taut. At autopsy, well-formed bile ductules were absent from most portal tracts of the liver. The pancreas showed mild interstitial fibrosis, and nerve trunks appeared somewhat prominently within the fibrous tissue. The external appearance closely resembled that reported by Elejalde et al. (1977), although there was no evidence of craniosynostosis or polydactyly.
Silhanova et al. (2006) reported an affected child born to nonconsanguineous parents in Poland. Prenatal ultrasound at 17 weeks' gestation showed abnormal shape of the head, short long bones, and hygroma colli. At birth, the infant had a swollen acrocephalic head, small and abnormally modeled ears, small and flat nose, big mouth, hypertelorism, epicanthal folds, short thick neck with a soft tissue mass over the posterior scalp and nape of the neck, short limbs with brachydactyly, genua recurvata, and protuberant abdomen. She died from respiratory failure 11 hours after birth. Postmortem examination showed craniosynostosis, hypoplastic lungs, hepatomegaly, ascites, small kidneys with abnormal lobulation, and fibrosis of the pancreas. Histologic examination of several organs showed abnormal fibrotic changes. Silhanova et al. (2006) postulated that a defect in a fibroblast growth factor receptor gene may be responsible for the phenotype.
Phadke et al. (2011) reported a 33-week-old fetus, born of unrelated Indian parents, with features consistent with Elejalde syndrome. The fetus had a globular external appearance with distended, thick skin, bloated face, and ascites. Birth weight was increased (greater than 95th percentile), and he had micromelia and anal atresia; there was no craniosynostosis. Pathologic examination showed multicystic kidneys, partial duplication of the ureters, hypoplastic lungs, a complex heart defect, and enlarged liver with periportal and perivenular fibrosis and perivascular nerve fiber proliferation. Radiographs showed partial rib fusion on the left and some hemivertebrae.
NomenclatureThis disorder is distinct from the similarly named Elejalde disease (256710), which is also known as neuroectodermal melanolysosomal disease.