Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies

Abstract

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel ¿1980: Helv Paediatr Acta 35:243-251 and van Gelderen ¿1982: Am J Med Genet 13:383-387. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X-linked recessive inheritance or parental germinal mosaicism for a dominant mutation.

Growth Characteristics of Children With Ectodermal Dysplasia Syndromes

“…Although abnormal linear and ponderal growth patterns have been described in other genetic syndromes, [20][21][22] reports of growth abnormalities in children with the ED syn- dromes are infrequent. 23,24 Our findings emphasize to clinicians the importance of monitoring carefully the growth patterns of children with these disorders, although the ED syndromes are uncommon in general pediatric practice. The growth pattern of the children with the ED syndromes in this study deviated significantly by z score criteria from that of the healthy US reference population.…”

“…Genetic defects that lead to a cluster of malformations may predispose some children with the ED syndromes to linear growth stunting. 23,24 Endocrine abnormalities are unlikely to contribute to linear growth abnormalities, although there is a paucity of information about the hormonal status of individuals who are affected with the ED syndromes. 25,26 Growth hormone deficiency has been reported in 2 children with the EEC syndrome and isolated absent septum pellucidum.…”

Expanding the phenotype of alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature

“…The broad overlap of clinical features in both syndromes suggests that ACD and IFAP syndromes may be part of a common developmental pathway (Table 2). Furthermore, autosomalrecessive or X-linked recessive inheritance has been proposed for ACD syndrome [5]. X-linked recessive inheritance was proposed for IFAP syndrome as well [1,5,6,7,10,12], but the observation of Cambiaghi in 2002 [2], who described two female patients with IFAP syndrome, makes autosomalrecessive inheritance more likely.…”

“…Furthermore, autosomalrecessive or X-linked recessive inheritance has been proposed for ACD syndrome [5]. X-linked recessive inheritance was proposed for IFAP syndrome as well [1,5,6,7,10,12], but the observation of Cambiaghi in 2002 [2], who described two female patients with IFAP syndrome, makes autosomalrecessive inheritance more likely. It remains to be determined whether these findings in ACD and IFAP patients represent different genetic entities (as suggested by Happle in 2004 [8]), different phenotypes of the same genotype, or the expression of a contiguous gene defect.…”

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro‐dermato‐osseous‐dysplasia

“…Two years later, van Gelderen [1982] described a 15‐year‐old intellectually disabled man with a nearly identical phenotype. Two further brothers and a sporadic 10‐year‐old boy are considered affected by the same disorder [Dumić et al, ; Schell‐Apacik et al, ]. In them, core manifestations are partially divergent with fewer or distinct skeletal findings compared to the previous ones, and novel features are also observed.…”