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]

• 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]

  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]

  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]

  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 Dense eyebrow Heavy eyebrows Prominent eyebrows [rarediseases.info.nih.gov]

  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

  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]

• Widely Spaced Nipples

  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 updated: 3/18/2019 [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]

• 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]

The skeletal and cardiovascular anomalies that can pose additional problems for surgical treatment and perioperative care are discussed in detail. [thejns.org]

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]

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]

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]