Symptoma

Goldberg-Shprintzen Syndrome

GOSHS

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]

  • Sudden Infant Death Syndrome

    An important gene associated with Goldberg-Shprintzen Syndrome is KIF1BP (KIF1 Binding Protein), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and G-protein signaling_H-RAS regulation pathway [malacards.org]

  • Asymptomatic

    MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 Clinical Utility: Molecular confirmation of a clinical diagnosis in symptomatic individuals Risk assessment of asymptomatic [genedx.com]

  • Slender Habitus

    Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers and toes (arachnodactyly). [ncbi.nlm.nih.gov]

  • 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]

  • 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]

  • Cutaneous Manifestation

    Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with cutaneous manifestations (velvety and translucent skin [ncbi.nlm.nih.gov]

  • 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]

  • 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]

  • 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]

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]

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]

The prognosis is influenced by the type and localization of the protein. The family history is inconspicuous in about 25% of established cases of MFS1. These are new mutations. [aerzteblatt.de]

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]

Many investigators have linked a fourth region (15q25-qter) in the etiology of this disorder [ 18 ]. [panafrican-med-journal.com]

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]

Epidemiology Frequency United States The prevalence of velocardiofacial syndrome in the United States is approximately 1:2,000. [7] International Velocardiofacial syndrome occurs in 1 per 4000 births worldwide, according to estimates. [emedicine.medscape.com]

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]

Pathophysiology This congenital disorder is caused by a deletion (microdeletion) at the q11.2 band, which is located on the long arm (q) of chromosome 22 (see the images below). [emedicine.medscape.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]

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]