A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. [ncbi.nlm.nih.gov]

Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems [findzebra.com]

Antonialli, GPM, Oliveira, MM, Melaragno, MIsabel SA, Casteels, I, de Ravel, T, Brunoni, D, Valle, D, Perez, ABeatriz A JournalAm J Med Genet A Volume164A Issue5 Pagination1170-4 Date Published2014 May ISSN1552-4833 Keywords Abnormalities, Multiple, Adult, Arachnodactyly [mendelian.org]

[…] short palpebral fissures, bilateral sclerocornea, nystagmus, strabismus, hypoplastic alae nase with prominent columela and depressed nasal tip, malar hypoplasia, prominent everted lips, prominent, low set and posterior angulated ears, pectus escavatum, arachnodactyly [ashg.org]

[…] sclerosis of mastoid cells, thoracic and lumbar scoliosis, gracile ribs, narrow iliac, slender long bones, mild bowing of femur and fibula, shortened ulna not articulated with the radius, long metatarsus, bilateral valgus deformity of the halluces and osteopenia [ashg.org]

Deformities, Congenital, Homozygote, Humans, Male, Phenotype, Radiography, Scavenger Receptors, Class F, Sequence Analysis, DNA, Sequence Deletion, Young Adult Abstract Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized [mendelian.org]

corneal opacity interfering with vision Congenital corneal opacity interfering with vision (disorder) Congenital corneal opacity not interfering with vision Congenital corneal opacity not interfering with vision (disorder) Congenital corneal opacity [averbis.com]

His second case had congenital staphyloma in one eye with microphthalmos and central corneal opacity in the other. [healio.com]

File Size: 71 KB Related: Corneal opacity, Peters anomaly, CHED, Axenfeld-Reiger syndrome, Sclerocornea, Dermoid, mucopolysaccharidoses, Mucolipidoses, Cystinosis, Megalocornea, Microcornea, Cornea plana, Corectopia, Aniridia, Coloboma Pediatric Ophth [aao.org]

Opacity Female Follow-Up Studies Humans Infant Keratoplasty, Penetrating Ultrasonography [scholars.duke.edu]

Van den Ende-Gupta Syndrome (VDEGS) (OMIM - 600920) is a rare autosomal recessive disease characterized by blepharophimosis, beaked nose, hypoplastic maxila, skeletal abnormalities (hooked clavicles, gracile ribs, bowed long bones) and normal psychomotor [ashg.org]

Van den Ende-Gupta Syndrome (VDEGS) (OMIM - 600920) is a rare autosomal recessive disease characterized by blepharophimosis, beaked nose, hypoplastic maxila, skeletal abnormalities (hooked clavicles, gracile ribs, bowed long bones) and normal psychomotor [ashg.org]