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Goldberg-Shprintzen Syndrome

GOSHS


Presentation

  • Facial dysmorphism is present at birth but becomes more evident later on.[orpha.net]
  • KBP may play a key role in cytoskeleton formation and neurite growth.Hirschsprung's disease may be part of the presentation.[en.wikipedia.org]
  • The Ser305Asn substitution present in two of the four patients and four healthy relatives and absent in one of the remaining two patients illustrates the difficulties in interpreting the presence of mutations in families with Hirschsprung disease.[ncbi.nlm.nih.gov]
  • SGS Prevalence: Inheritance: Autosomal dominant or Multigenic/multifactorial or Not applicable Age of onset: Infancy, Neonatal ICD-10: Q87.8 OMIM: 182212 UMLS: C1321551 MeSH: C537328 GARD: 4861 MedDRA: - The documents contained in this web site are presented[orpha.net]
High Arched Palate
  • Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate) developmental abnormalities.[en.wikipedia.org]
  • She had microcephaly, hypertelorism, broad nasal bridge, high-arched palate, thick eyebrows, and an IQ of 25. CT showed frontal and temporal lobe atrophy. The clinical findings in 8 additional patients are summarized from published reports.[pediatricneurologybriefs.com]
  • Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot.[orpha.net]
  • He had telecanthus, downward slanting palpebral fissures, broad nasal bridge with a bulbous nose, a high arched palate with a bifid uvula, and large anteverted ears. His thumbs were short and broad and his toes overlapped.[jmg.bmj.com]
Sparse Hair
  • The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft[humpath.com]
  • Dysmorphic facial features included sparse hair, arched eyebrows, long eyelashes, ptosis, downslanting palpebral fissures, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip, and pointed chin.[omim.org]
  • Distinctive facial features consisted of severe microcephaly (lesser than third percentile), sparse hair, arched eyebrows, long eyelashes, ptosis, downslanting palpebral fissures, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum,[doi.org]
Blue Sclera
  • Dysmorphological evaluation at 5 years (fig 2 ) showed high arched eyebrows, dense curled eyelashes, a broad nasal bridge, blue sclerae, large corneae (corneal diameter 13.5 mm), a mild thoracic scoliosis, mild syndactyly of digits II and III, and a broad[jmg.bmj.com]
  • sclerae Exotropia Craniosynostosis Cervical spine instability Talipes equinovarus Soft and velvety skin Translucent skin Easy bruising Generalized arterial tortuosity and aneurysms Dissection throughout the arterial tree Aortic aneurysms behave very[medicinman.cz]
  • On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia. One patient had a retinal detachment diagnosed on funduscopy and not detected on CT. Facial.[ajnr.org]
Small Hand
  • Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot.[orpha.net]
  • We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot. Table 1.[doi.org]
Brachydactyly
  • Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot.[orpha.net]
  • We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot. Table 1.[doi.org]
Small Hand
  • Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot.[orpha.net]
  • We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot. Table 1.[doi.org]
Muscle Hypotonia
  • hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine 2-oxoglutarate 5-dioxygenase 1 (PLOD1: lysyl hydroxylase 1) Diagnostic is:[medicinman.cz]
Short Neck
  • Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot.[orpha.net]
  • A broad nasal bridge, low set ears, and a short neck were reported. Failure to pass meconium and vomiting were indications for referral to the Department of Paediatric Surgery. Long segment HSCR was diagnosed and an ileostomy was made.[jmg.bmj.com]
  • We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot. Table 1.[doi.org]
Short Neck
  • Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot.[orpha.net]
  • A broad nasal bridge, low set ears, and a short neck were reported. Failure to pass meconium and vomiting were indications for referral to the Department of Paediatric Surgery. Long segment HSCR was diagnosed and an ileostomy was made.[jmg.bmj.com]
  • We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot. Table 1.[doi.org]
Widely Spaced Nipples
  • At 2 weeks of age, she showed telecanthus (her ICD was 2.7 cm ( 97th centile) and OCD 7 cm (75th-97th centile)), a prominent nasal bridge, tapering fingers, and widely spaced nipples. Involuntary movements of the head started from 3 months of age.[jmg.bmj.com]
Cryptorchidism
  • Other highly variable features include ocular abnormalities (e.g. hyperopia, bilateral megalocornea), congenital heart defects (such as ventricular septal defects, aortic valve incompetence), urogenital abnormalities (incl. cryptorchidism, vesicoureteral[orpha.net]
  • Urogenital features were unilateral multicystic renal dysplasia with contralateral vesicoureteral reflux (F2, IV-3) and bilateral cryptorchidism (F2, IV-1).[doi.org]
  • […] include cerebral (agenesis of the corpus callosum), cardiac (patent ductus arteriosus,ventricular septal defect, valvular pulmonary stenosis; see these terms), pulmonary (artery sling, with or without tracheal stenosis), genitourinary (hypospadias, cryptorchidism[orpha.net]
Sleep Disturbance
  • Joint laxity was a feature in one patient (F3, V-2), exaggerated deep tendon reflexes with peripheral hypertonia in two patients (F1, IV-2 and F2, IV-1) and anxiety with sleep disturbances in one patient (F2, IV-1).[doi.org]

Treatment

  • Management and treatment Multidisciplinary medical care and preventive actions, such as treatment of cardiac, ocular, urogenital and skeletal issues and Hirschsprung disease, are required.[orpha.net]
  • There is no specific treatment for Goldberg-Shprintzen megacolon syndrome. Surgery may be done to treat Hirschsprung disease.[rarediseases.info.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Standard Therapies Treatment Treatments for SGS are currently limited to symptom management.[rarediseases.org]

Prognosis

  • Prognosis Little information is available about the long-term outlook for individuals with Goldberg-Schprintzen megacolon syndrome. Quality of life and life expectancy depend on the presence and severity of birth defects.[orpha.net]
  • Prognosis Mortality and morbidity depend on the presence and severity of congenital anomalies. Patients have been reported to live into early adulthood but require assistance with the activities of daily living.[orpha.net]
  • Besides, prognosis is poor in cases having cardiac complications, if not detected early.[panafrican-med-journal.com]

Etiology

  • Synopsis microcephaly mental retardation Hirschsprung disease bilateral generalized polymicogyria Etiology The disease causing gene KIAA1279 has been identified in a large consanguineous family and encodes a protein of unknown function. germline mutations[humpath.com]
  • Etiology Disease is caused by bi-allelic mutations in KIF1BP (10q21.3-q22.1), encoding kinesin family member 1 binding protein. KIF1BP loss of function disrupts cytoskeletal homeostasis.[orpha.net]
  • Etiology MWS is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox 2 gene, ZEB2 , (2q22.3) previously called ZFHX1B (SIP1).[orpha.net]
  • Many investigators have linked a fourth region (15q25-qter) in the etiology of this disorder [ 18 ].[panafrican-med-journal.com]

Epidemiology

  • Summary Epidemiology Worldwide prevalence is less than 1/1,000,000; to date 24 cases have been described in the scientific and medical literature.[orpha.net]
  • Summary Epidemiology Prevalence is estimated at 1/50,000 to 1/70,000 live births. Over 200 patients have been reported so far. It seems probable that MWS is underdiagnosed, particularly in patients without HSCR.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately[mayomedicallaboratories.com]
  • We sought to clarify the pathophysiology of GOSHS by determining whether KBP was involved in the mitochondrial and cytoskeletal network of human fibroblasts and of a neuron-like cell line (human neuroblastoma SH-SY5Y).[doi.org]

Prevention

  • The SKI mutation prevents the TGF-β signaling pathway from carrying out its many functions in these areas, and as a result these signs and symptoms are seen in those people with Shprintzen-Goldberg Syndrome.[marfan.co]
  • Management and treatment Multidisciplinary medical care and preventive actions, such as treatment of cardiac, ocular, urogenital and skeletal issues and Hirschsprung disease, are required.[orpha.net]
  • One common feature of Shprintzen-Goldberg syndrome is craniosynostosis, a birth defect in which skull bones fuse or join together too early, preventing the skull from growing normally. This can cause problems with normal brain and skull growth.[stlouischildrens.org]
  • One common feature of Shprintzen-Goldberg syndrome is craniosynostosis , a birth defect in which skull bones fuse or join together too early, preventing the skull from growing normally. This can cause problems with normal brain and skull growth.[stlouischildrens.org]

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