Shprintzen-Goldberg Craniosynostosis syndrome (SGS)

Qu'est-ce que Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

This rare disease is a very rare genetic condition that affects the connective tissue of the body.

The main syndromes concern the skeletal, facial and cardiovascular parts of the body.

There are, to date, less than 50 patients worldwide diagnosed with the condition.

Syndrome Synonyms:
Craniosynostosis With Arachnodactyly And Abdominal Hernias; Marfanoid Craniosynostosis Syndrome; Marfanoid Disorder With Craniosynostosis, Type I

Quelles sont les causes des changements génétiques Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

Les mutations du gène SKI sont responsables du syndrome. Il est hérité selon un modèle autosomique dominant.

Dans le cas de l'hérédité autosomique dominante, un seul parent est porteur de la mutation génique, et ils ont 50% de chances de la transmettre à chacun de leurs enfants. Les les syndromes hérités d'une transmission autosomique dominante sont causés par une seule copie de la mutation génique.

Quels sont les principaux symptômes de Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

The main symptom of the syndrome is the premature fusing of the cranial, the part of the skull that encases the brain, bones in infancy.

Characteristic physical features of the syndrome include a narrow and long skull, wide-set eyes, low set ears, a receding chin, bulging eye or eyes, flat feet, long and elongated fingers and toes and a high palate.

Other potential health conditions include weak muscle tone, and hernias.

Severe developmental delays and intellectual disability are also common features of the condition.

Possible clinical traits/features:
Muscular hypotonia, Mitral valve prolapse, Minimal subcutaneous fat, Low-set, posteriorly rotated ears, Inguinal hernia, Intellectual disability, Micrognathia, Osteopenia, Pectus excavatum, Metaphyseal widening, Metatarsus adductus, Narrow chest, Narrow palate, Myopia, Anteverted nares, Abnormal form of the vertebral bodies, Abdominal wall muscle weakness, Joint laxity, Joint contracture of the hand, Joint hypermobility, Telecanthus, Frontal bossing, Ptosis, Proptosis, Camptodactyly of finger, Talipes equinovarus, Talipes, Umbilical hernia, Scoliosis, Strabismus, Microcephaly, Supernumerary ribs, Reduced bone mineral density, Sporadic, Abnormality of the pinna, Abnormal mitral valve morphology, Abnormality of the metaphysis, Abnormality of the ribs, Aplasia/Hypoplasia of the abdominal wall musculature, Aortic dilatation, Arnold-Chiari type I malformation, Arnold-Chiari malformation, Arachnodactyly, Apnea, C1-C2 vertebral abnormality, Camptodactyly of toe, Abnormal aortic valve morphology, Obstructive sleep ap

Comment quelqu'un se fait-il tester pour Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

Le dépistage initial du syndrome de craniosynostose de Shprintzen-Goldberg peut commencer par un dépistage par analyse faciale, à travers le FDNA Telehealth plate-forme de télégénétique, qui peut identifier les marqueurs clés du syndrome et souligner le besoin de tests supplémentaires. Une consultation avec un conseiller en génétique puis un généticien suivra.

Sur la base de cette consultation clinique avec un généticien, les différentes options de tests génétiques seront partagées et le consentement sera recherché pour d'autres tests.

Informations médicales sur Shprintzen-Goldberg Craniosynostosis syndrome (SGS)

Shprintzen and Goldberg (1982) described two unrelated males with craniostenosis, exophthalmos, maxillary and mandibular hypoplasia, prominent lateral palatine ridges, low-set soft ears, abdominal hernias, arachnodactyly and camptodactyly. Milestones were delayed and there was hypotonia and mental retardation. Patients become increasingly dysmorphic with age with marked hypertelorism, shallow orbital ridges, downslanting palpebral fissures and marked micrognathia.
Note that a full skeletal survey was not reported on either of these cases, and the differential diagnosis includes skeletal dysplasias such as Melnick-Needles syndrome. Indeed Ades et al., (1995) reported four girls who they suggested had features of Shprintzen-Goldberg syndrome. However, radiographs did show many features of Melnick-Needles syndrome and some cases do seem to show overlap between the two conditions. The monozygotic twins reported by Ades et al., (1995) have also been reported by Kozlowski et al., (1992) as a new syndrome (see comments under Melnick-Needles syndrome). A sister of these twins was affected and the parents were apparently normal. Kosztolanyi et al., (1995) reported a further case with features of both conditions. Craniosynostosis was not present and the clinical features were consistent with Melnick-Needles Syndrome apart from the arachnodactyly. This child had laryngeal hypoplasia.
Saal et al., (1995) reported a further possible case with cloverleaf skull with hydrocephaly and hypoplasia of the corpus callosum. Choanal atresia was also present. Shah et al., (1996) reported a male with Marfanoid features and craniosynostosis.
Furlong (1987) described a similar condition without mental retardation (qv). Lacombe and Battin (1993) reported a further case with similar features, again with normal intelligence. It is possible that these cases are part of the same syndrome spectrum.
Sood et al., (1996) reported mutations in the fibrillin-1 gene in two unrelated cases with features of the condition. However Wang et al., (1997) suggested that one mutation (P1148A) was in fact polymorphic in Asian populations. Watanabe et al., (1997) made the same point.
It is not certain that all the cases reported under this designation have the same condition. Some cases appear to have a Marfanoid phenotype with craniosynostosis and are candidates for fibrillin-1mutations. Other cases appear to overlap with Melnick-Needles syndrome and sibs have been affected with apparently normal parents (Ades et al., 1995). Note the sibs reported by Richieri-Costa et al., (1993) as a newly recognized syndrome. The diagnosis reported in the case by Hassed et al., (1997) is also uncertain - there were features of Antley-Bixler syndrome. Care should be taken in assessing recurrence risks where a child has craniosynostosis and ""marfanoid"" features.
Greally et al., (1998) provide a review of cases up to 1998. Stoll (2002) provides a useful follow-up of a case of 24 years. Puberty was delayed until 18 years. At 24 years of age psychomotor development was normal.
Robinson et al., (2005) reported 14 cases from Germany. Some patients showed classical features (for instance SM and DM), in others the diagnosis was doubtful (for instance BL and ME). No pictures of all patients were available, especially not of the familial cases, and some may have the Loeys-Dietz syndrome (Loeys et al., 2005) - see elsewhere. Kosaki et al., (2006) reported 2 patients whom they thought had the Shprintzen-Goldberg syndrome (the 2nd patient probably had Loeys-Dietz syndrome). The first had a FBN1 mutation and the second a TGFRB2 mutation. As Robinson et al., (2006) commented, patients with TBFRB2 mutations, can look remarkably like Shprintzen-Goldberg syndrome patients.
Maternal half-sibs were reported by Shanske et al., (2012). Mother was a germline mosaic
Mutations in SKI, a TGF-beta repressor has now been found to be another major cause of the syndrome (Doyle et al., 2012, Carmignac et al., 2012).. Au et al., (2014) reported 2 new cases with SKI mutations (in exon 1 ) and review all other reported cases with this mutation.


* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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