Alternative titles; symbols
Other entities represented in this entry:
ORPHA: 974; DO: 0060227;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 3q13.32-q13.33 | Adams-Oliver syndrome 1 | 100300 | Autosomal dominant | 3 | ARHGAP31 | 610911 |
A number sign (#) is used with this entry because of evidence that Adams-Oliver syndrome-1 (AOS1) is caused by heterozygous mutation in the ARHGAP31 gene (610911) on chromosome 3q13.
Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).
Genetic Heterogeneity of Adams-Oliver Syndrome
Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (614814), caused by mutation in the RBPJ gene (147183) on chromosome 4p15; AOS5 (616028), caused by mutation in the NOTCH1 gene (190198) on chromosome 9q34; and AOS6 (616589), caused by mutation in the DLL4 gene (605185) on chromosome 15q15.1.
Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14.
Adams and Oliver (1945) reported a boy with absence of the lower extremities below the midcalf region, absence of all digits and some of the metacarpals of the right hand, a denuded ulcerated area on the vertex of the scalp present at birth, and a bony defect of the skull underlying the scalp defect. The skin and skull lesions were similar to those of aplasia cutis congenita (ACC; 107600). The proband had 4 unaffected brothers and a sister and brother with identical defects of limbs, scalp, and skull. The father was born with absence of toes 2-5 on the left foot, short terminal phalanges of all fingers, and a scalp defect. The father was 1 of 10 children, 3 of whom had defects of the extremities. The father's father was said to have had short fingers. Whitley and Gorlin (1991) provided a follow-up on the family studied by Adams and Oliver (1945); the disorder had been transmitted to a member of a fourth generation. In the intervening 45 years, the original proband had survived to adulthood and was employed, using orthotic devices for lower limb defects. He reported good quality of life and no other medical problems.
Scribanu and Temtamy (1975) described a family with aplasia cutis congenita with terminal transverse defects of the limbs. The proband was a 3-year-old boy with striking cutis marmorata telangiectatica congenita (CMTC; 219250). There was variable expressivity and reduced penetrance.
Toriello et al. (1988) described cutis marmorata telangiectatica congenita in a child with the Adams-Oliver syndrome. He also had pulmonary hypertension in association with pulmonary vein stenosis and died at age 4 months of cardiopulmonary arrest. The mother had CMTC without other features.
Kuster et al. (1988) described 10 individuals with AOS, 7 of them in 2 families and 3 sporadic. The most common features included absence of middle and distal phalanges, brachydactyly, malformed toes, syndactyly of the toes, nail dysplasia, hairless scalp patches, and osseous skull defects. One child had tetralogy of Fallot. The authors identified 11 affected families and 19 sporadic cases that had been reported and found great variability of limb anomalies, ranging from brachydactyly to absent lower limbs. The family data suggested autosomal dominant inheritance.
Santos et al. (1989) reported a girl with scalp ACC and no distal limb anomalies, who also had aortic coarctation and ventricular septal defect; her mother had ACC and upper and lower limb reductions, and her maternal grandmother had typical ACC. The authors suggested that congenital heart disease could be a component manifestation of AOS.
Jaeggi et al. (1990) reported an affected mother and child as well as a third sporadic case. Among the 31 reported patients with the full syndrome, major hemorrhage from the scalp defect occurred in 10, with 2 fatalities. Local infection was noted in 7 babies, with 1 case of fatal meningitis. Only 30% of the patients had surgical treatment of their scalp defects by skin grafting.
Whitley and Gorlin (1991) found reports of 81 cases in 32 families with approximately equal distribution between males and females. The limb defects were usually asymmetric and ranged from hypoplastic nails to absence of a hand or foot. Vertical transmission in at least 8 families was consistent with autosomal dominant inheritance. Despite large defects of the cranium, the authors stated that central nervous system abnormalities had not been found in this disorder and intellectual development appeared to be normal.
David et al. (1991) reported congenital heart disease in association with the features of Adams-Oliver syndrome. This brought to 6 the number of cases of such an association. Ishikiriyama et al. (1992) added to the description of the association and suggested that ventricular septal defect, including tetralogy of Fallot, may be the predominant type of congenital heart defect in the Adams-Oliver syndrome.
Fryns et al. (1992) reported a 6-month-old, developmentally retarded male with a congenital scalp defect associated with a ventricular septal defect and valvular pulmonary stenosis. Hands and feet were relatively small with short distal phalanges and small nails of the fifth fingers. Brain CT scan showed marked cerebellar hypoplasia and vermis agenesis. They noted that Paltzik and Aiello (1985) had reported scalp defect in association with ventricular septal defect and pulmonary stenosis.
On the basis of a sporadic case in a 10-year-old male, Chitayat et al. (1992) suggested that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. In acrania, the flat bones of the cranial vault are absent, whereas the bones at the base of the skull are normal.
Farrell et al. (1993) described a sporadic case of AOS in a male infant. In addition to typical manifestations, he had atrial septal defect, chylothorax, and chronic juvenile myelogenous leukemia which was diagnosed at 9 months. Review of the literature (102 cases) showed that 78% of patients had defects of lower limbs and 59% had defects of upper limbs. To avoid ascertainment bias, Farrell et al. (1993) excluded propositi for calculations of scalp and skull defects. After this exclusion, 56% of patients had scalp defects and 21% had skull defects.
Bamforth et al. (1994) reported AOS in a mother and her 3 children with variable scalp defects and limb defects. Other anomalies included congenital heart disease, microcephaly, epilepsy, mental retardation, arhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The 3 children were by 2 different fathers.
Zapata et al. (1995) reported 2 patients with Adams-Oliver syndrome and congenital cardiac malformations. A literature review demonstrated that 13.4% of individuals with this syndrome have congenital heart anomalies.
Pousti and Bartlett (1997) described cutis aplasia congenita in twin boys born to a mother with a history of cutis aplasia. One of the infants had associated distal limb anomalies and the other had cardiac anomalies.
Lin et al. (1998) reported a mother with scalp ACC but normal digits, who had heart sounds consistent with a bicuspid aortic valve. She had twin boys with AOS and heart anomalies: the cardiac findings were consistent with Shone complex in 1 twin and consisted of bicuspid aortic valve and patent ductus arteriosus in the other. Lin et al. (1998) reported a second family in which the proband was a 3.5-year-old girl with AOS and bicuspid aortic valve, whose father had AOS consisting of ACC and small distal fingertips and fingernails; her sister and paternal grandfather reportedly also had mild AOS features with ACC and digital hypoplasia. Lin et al. (1998) reviewed published cases of AOS and stated that approximately 20% have associated cardiovascular malformations, frequently involving obstructive lesions on the left side of the heart.
Swartz et al. (1999) reported a 4-year-old girl with AOS who also had double-outlet right ventricle, pulmonary hypertension, and portal hypertension resulting from hepatoportal sclerosis.
Keymolen et al. (1999) reported a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome, who also showed constriction rings, making the limb anomalies similar to those seen in the amniotic band disruption sequence (217100). The report was further evidence that the Adams-Oliver syndrome may be a vascular disruption sequence.
Savarirayan et al. (1999) described a boy with AOS whose sister was also mildly affected. Their mother had hypoplastic fifth toenails, thought to represent very mild expression of the syndrome. Computed tomography of the brain to investigate mild left hemiparesis in the boy demonstrated severe cortical dysplasia of central, occipital, and anterior regions of the right cerebral hemisphere. The boy and his sister had apparent constriction rings present on the toes.
Pereira-da-Silva et al. (2000) described 2 patients with AOS, one of whom had necrotic lesions of the fingertips, generalized cutis marmorata telangiectatica, and localized ulceration of the abdominal skin, indicative of a vascular abnormality.
Patel et al. (2004) described 2 children with AOS and additional features, including intrauterine growth retardation, CMTC, pulmonary hypertension, intracranial densities (shown in 1 patient to be sites of active bleeding), and osteopenia. Patel et al. (2004) concluded that the 2 patients they described, in addition to those reported by Toriello et al. (1988) and Swartz et al. (1999), established that a subset of AOS patients is at high risk for pulmonary hypertension.
Maniscalco et al. (2005) reported a father and son with AOS and pulmonary arteriovenous malformations (PAVMs). Manifestations of AOS in this 3-generation family included scalp defect, digital hypoplasia and/or syndactyly, and cutis marmorata telangiectasia. The authors suggested that the occurrence of PAVM in AOS supported the hypothesis that endothelial-specific abnormalities could be the pathophysiologic mechanism for the development of AOS.
Rodrigues (2007) reported a family in which 4 individuals spanning 4 generations had aplasia cutis congenita and congenital heart lesions. In addition, affected individuals had craniofacial abnormalities associated with frontonasal cysts. The proband presented at age 9 days with a midline frontal cyst between the eyebrows. She also had small C-shaped ears, prominent nasal bridge, and a V-shaped gingival notch. Other features included brachydactyly and ventricular septal defect. The proband's mother and grandmother had similar features and a maternal grandfather was reportedly affected. None of the affected members had neurologic or mental impairment.
Snape et al. (2009) described 3 cases of AOS and provided a detailed review of the available literature, with tabulation of the clinical features of all reported AOS dominant and recessive families as well as sporadic patients.
Papadopoulou et al. (2008) reported a 14-month-old boy with aplasia cutis congenita, distal limb transverse defects, growth retardation, and a wide atrial septal defect. Central nervous system abnormalities included central hypotonia, small corpus callosum, and developmental delay. MRI showed periventricular leukomalacia and enlarged ventricles. Fetal MRI at 26 weeks' gestation had shown bilateral dilatation of lateral ventricles and periventricular cysts at the site of the postnatal lesions, as well as a hypoplastic corpus callosum. The patient's father and paternal grandfather also had aplasia cutis congenita without mental defect or other anomalies. The antenatal and postnatal MRI findings suggested to the authors that this patient's periventricular leukomalacia may represent an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development.
Citing previous studies that have shown the possible association between ACC of the scalp and various congenital heart defects, including patent ductus arteriosus (Deeken and Caplan, 1970) and ventricular septal defect (Dubosson and Schneider, 1978), and noting that such congenital heart defects occur in approximately 20% of AOS patients (Lin et al., 1998), Digilio et al. (2008) proposed that variability in clinical expression of AOS might include the association of congenital heart defect and ACC without limb defects. Digilio et al. (2008) pointed to families in which some members exhibit classic AOS and other members have only ACC and congenital heart defect (Santos et al., 1989; Lin et al., 1998) to substantiate their hypothesis.
Reviews
Sybert (1985) and Frieden (1986) provided reviews.
Stittrich et al. (2014) stated that the incidence of AOS is approximately 1 in 225,000 individuals.
Bonafede and Beighton (1979) reported a family in which 9 members spanning 4 generations had congenital scalp defects associated with abnormalities of the hands and feet. Circumscribed defects of the skull were an inconsistent finding. Inheritance was clearly autosomal dominant, with one instance of male-to-male transmission.
Sybert (1989) concluded that ACC in association with limb defects is most often inherited in an autosomal dominant pattern.
Toriello et al. (1988) suggested that the vascular changes in the skin may indicate that features of Adams-Oliver syndrome result from vascular disruption sequences. Jaeggi et al. (1990) also noted that cutis marmorata and dilated scalp veins in AOS suggested a probable vascular disruptive pathogenesis.
Der Kaloustian et al. (1991) described 2 families having members affected with the Poland anomalad (173800) and AOS. They hypothesized that the Poland anomalad and AOS result from the interruption of early embryonic blood supply in the subclavian arteries, and that the gene predisposing to this interruption follows an autosomal dominant pattern of inheritance. Hoyme et al. (1992) reported that 2 additional individuals in family 2 of Der Kaloustian et al. (1991) had the Poland sequence with no findings of Adams-Oliver syndrome.
Swartz et al. (1999) suggested that AOS should be considered not merely a syndrome consisting of aplasia cutis congenita and terminal transverse limb defects, but rather a constellation of clinical findings resulting from an early embryonic vascular abnormality.
Postmortem examination of an AOS patient with pulmonary hypertension reported by Patel et al. (2004) showed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with 2 blood vessel abnormalities. Pericyte absence correlated with vessel dilatation whereas hyperproliferation of pericytes correlated with vessel stenosis. These findings suggested a unifying pathogenic mechanism for the abnormalities seen in AOS.
Verdyck et al. (2006) reported a Belgian family in which 10 individuals over 4 generations had Adams-Oliver syndrome, 6 of whom were available for study. Clinical symptoms were variable, as reported in other families, and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of 1 foot.
Southgate et al. (2011) performed a genomewide screen in 22 members of 2 multigenerational families segregating autosomal dominant Adams-Oliver syndrome, originally reported by Bonafede and Beighton (1979) and Verdyck et al. (2006), respectively, and identified a locus for the disease on chromosome 3q13.31-q13.33. Fine mapping defined a 5.53-Mb critical interval flanked by markers rs714697 and D3S4523. A maximum multipoint lod score of 4.93 was obtained at marker rs1464311.
In 2 families with congenital scalp defects and distal limb reduction anomalies mapping to chromosome 3q13, originally reported by Bonafede and Beighton (1979) and Verdyck et al. (2006), respectively, Southgate et al. (2011) sequenced 4 candidate genes and identified heterozygosity for 2 different truncating mutations in the ARHGAP31 gene (610911.0001 and 610911.0002, respectively) that segregated with disease in each family. Sequencing of ARHGAP31 in 3 additional multiplex AOS kindreds as well as 43 sporadic patients with features of aplasia cutis congenita and/or terminal transverse limb defects revealed no mutations.
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