Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Abstract

We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre-and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone. The children also showed intracranial calcification, impaired neutrophil phagocytosis, increased proportion of B lymphocytes, reduced CD4 and CD8 subpopulations of T lymphocytes, and inhibited transformation in response to Candida antigen. Fluorescence in situ hybridisation (FISH) was applied to blood lymphocyte metaphase spreads from these two Bedouin sibs and their parents using probe D22S75 (Oncor), specific for the DiGeorge critical region on chromosome 22ql1.2. The presence of 22q11.2 haploinsufficiency was identified in the affected sibs, which was transmitted from the phenotypically normal mother. The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome.

Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait

“…Evaluation of the patients' photographs and their phenotypes suggested a diagnosis of SSS rather than KCS type 1. Following this report, 2 other cases of KCS with deletion of 22q were reported, and it was suggested to extend the spectrum of CATCH 22 to accommodate KCS [7,8]. The clinical basis of these cases seems to point to SSS rather than KCS.…”

“…Clinically, the syndrome has a wide phenotypic spectrum including deep set eyes, microcephaly, micro gnathia, thin lips, beaked nose, depressed nasal bridge, external ear anomalies, small hands and feet, short stature and learning difficulties [17]. In addition, hypo parathyroidism, and hypocalcaemia are constant findings [7,17,18]. Small maxilla, enamel hypoplasia and severely decayed teeth were recorded recently [17].…”

“…In Kuwait, no precise data are available, although some reports have been published. Low incidence is expected (and recorded) because some authors consider it a variant of Kenny-Caffey syndrome type 1 (KCS type 1; OMIM 244460) [7][8][9]. Revision of the reports on patients in Kuwait identified as KCS type 1 showed that they fulfilled the criteria for SSS, and might be considered as such.…”

Hypoparathyroidism‐retardation‐dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation—clinical report and review

“…Macrocephaly is commonly observed in patients with autosomal dominant KCS, and has also been described in AR KCS [Bergada et al, 1988], as was relative macrocephaly [Sarria et al, 1980]. The three other reports with AR KCS (see the online Table III at http://www.interscience.wiley.com/ jpages/1552-4825/suppmat/index.html) describe patients with rather unusual signs of KCS, such as microcephaly, early psychomotor retardation, and facial dysmorphism [Sabry et al, 1998[Sabry et al, , 1999Khan et al, 1997], and, therefore, Sabry proposed to call this unusual form ''the Arab variant of the KCS'' since all these patients were of Arab origin. As suggested by the recent molecular findings of similar mutations in the TBCE gene in SSS and AR KCS [Parvari et al, 2002], it is likely that both syndromes represent the same clinical entity.…”

The Autosomal Recessive Kenny–Caffey Syndrome Locus Maps to Chromosome 1q42–q43

“…Hypocalcemia can be marked in KCS, resulting in neonatal presentations with tetany (Majewski et al, 1981;Khan et al, 1997;Sabry et al, 1998) or seizures (Sarria et al, 1980;Bergada et al, 1988;Fanconi et al, 1986), and may recur during periods of metabolic stress. Endocrinologic evaluation of hypocalcemic patients has not clarified the role of parathyroid function in KCS, as reported values of parathyroid hormone (PTH) range from decreased or absent (Franceschini et al, 1992;Lee et al, 1983;Khan et al, 1997;Bergada et al, 1988;Fanconi et al, 1986) to normal (Majewski et al, 1981;Khan et al, 1997;Larsen et al, 1985), a variable that occurred even between affected siblings (Khan et al, 1997).…”