Facial dysmorphism is present at birth but becomes more evident later on. [orpha.net]

Arachnodactyly was present with ulnar camptodactyly and severe contractures of all digits (Figure 1). A decreased range of motion of the major joints was present. [hindawi.com]

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]

• Sepsis

  He died from complications of sepsis at the age of 3 weeks. Necropsy was not permitted. He had a normal 46,XY karyotype. Patient V.6, a 12 year old girl, is the fourth child of this couple. She was born at term after an uneventful pregnancy. [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]

  […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse scalp hair Reduced/lack of hair on scalp Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Ventriculomegaly 0002119 Wide nasal bridge Broad nasal bridge Broad [rarediseases.info.nih.gov]

• Blue Sclera

  He had dense eyebrows with mild synophrys, a broad nasal bridge, low set ears, and large corneae (corneal diameter 14.5 mm) with blue sclerae. Hypotonia and slipping through on vertical suspension were present. [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]

  sclerae Whites of eyes are a bluish-gray color 0000592 Bulbous nose 0000414 Clinodactyly Permanent curving of the finger 0030084 Congenital onset Symptoms present at birth 0003577 Corneal erosion Damage to outer layer of the cornea of the eye 0200020 [rarediseases.info.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]

  hand Disproportionately small hands 0200055 Sparse hair 0008070 Synophrys Monobrow Unibrow [ more ] 0000664 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows [rarediseases.info.nih.gov]

• Proximal Muscle Weakness

  This second trait could cause proximal muscle weakness, hypotonia, and the eye abnormalities. [jmg.bmj.com]

• 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]

• Widely Spaced Nipples

  […] distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 51 | Last updated: 2/1/2021 Cause Cause Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation ) in the KIAA1279gene .[3] Last [rarediseases.info.nih.gov]

  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]

• 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]

  neck Decreased length of neck 0000470 Short philtrum 0000322 Small hand Disproportionately small hands 0200055 Sparse hair 0008070 Synophrys Monobrow Unibrow [ more ] 0000664 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Telecanthus [rarediseases.info.nih.gov]

• Global Developmental Delay

  Hypotonia, severe global developmental delay (with greatest impairment in expressive language skills) and moderate to severe intellectual disability are constant features. [orpha.net]

  developmental delay 0001263 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypoplasia of the brainstem Small brainstem Underdeveloped brainstem [ more ] [rarediseases.info.nih.gov]

• Involuntary Movements

  Involuntary movements of the head started from 3 months of age. She was able to sit without support at the age of 7 months, but showed titubation of the head when seated or vertically suspended. [jmg.bmj.com]

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]

Treatment Treatment 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]

Other treatment is aimed at preventing or managing the symptoms and complications associated with this syndrome.[1][4] Last updated: 3/18/2019 Prognosis Prognosis The outcome of a rare disease is influenced by many factors. [rarediseases.info.nih.gov]

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]

Exome analysis was performed to clarify the etiology of the clinical features. A previously unreported homozygous c.1723delC (p.H575Ifs*19) variant was detected in the last exon 7 of KIFBP which led to GOSHS. [karger.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]

Genetics of Marfan Syndrome: Background, Pathophysiology ... ; Jan 4, 2017 ... Shprintzen-Goldberg syndrome (SGS) has been found to be caused by a pathogenic variant in the SKI gene, which encodes a negative ... [xphxpywl.cf]

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]

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]

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]

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]