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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]