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11 Possible Causes for Delayed Bone Age, Retinopathy, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    bone age, hip dysplasia, and elbow dislocation (Faivre et al. 2002).[preventiongenetics.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients.[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] telecanthus, epicanthal folds, ptosis, and blepharophimosis have been well documented in the Dubowitz syndrome.7 Cases of persistent hyperplastic primary vitreous and pigmentary retinopathy[healio.com]

  • Kenny-Caffey Syndrome Type 1

    Proportionate growth retardation (prenatal and postnatal) associated with delayed bone age is the most common feature.[accessanesthesiology.mhmedical.com] space between the first and second toes.[medcraveonline.com] Reference: Bardet-Biedl syndromeFrom NCBI Gene: Bardet-Biedl syndrome 9From UniProt: Bardet-Biedl syndrome 9 (BBS9): A syndrome characterized by usually severe pigmentary retinopathy[selfdecode.com]

  • Ring Chromosome 10

    Affected infants and children may also exhibit abnormally delayed, immature bone development (delayed bone age).[rarediseases.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] His pioneer work on stem cell therapy in type 2 diabetes and diabetes complications, particularly in diabetic foot and diabetic retinopathy, is widely recognized. Dr.[books.google.com]

  • Cutis Laxa

    Radiological investigation of the hand wrist bone showed a markedly delayed bone age.[karger.com] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] Clinically, the patient presented characteristics of both classic PXE (retinopathy, renal calcifications) and the PXE-like syndrome (cutis laxa beyond the flexural areas).[ncbi.nlm.nih.gov]

  • Trisomy 10p

    Affected infants and children may also exhibit abnormally delayed, immature bone development (delayed bone age).[rarediseases.org] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type II Osteogenesis imperfecta type III Osteogenesis Imperfecta type IV Osteogenesis imperfecta-optic atrophy-retinopathy-developmental[neurometplus.com]

  • Macrocephaly-Developmental Delay Syndrome

    Hand X-ray showed delayed bone age.[molecularcytogenetics.biomedcentral.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] […] and dislocation and mental retardation Yes Unnamed 27 Juvenile autoimmune hypothyroidism, pituitary enlargement, obesity and insulin resistance Yes Unnamed 28 Pigmentary retinopathy[raredr.com]

  • Mild Dysmorphic Features

    , downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et[unboundmedicine.com] , fourth, and fifth fingers; feet held in eversion, prominent heels; wide space between the first and second toes; proximally placed fifth toes; hypotonia; increased skin[ssmc-tl.com] […] and dislocation and mental retardation Yes Unnamed 27 Juvenile autoimmune hypothyroidism, pituitary enlargement, obesity and insulin resistance Yes Unnamed 28 Pigmentary retinopathy[raredr.com]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    bone age, facial dysmorphisms, and expressive language delays, indicative to a specific set of signs, symptoms or other health indicators, associated with short stature with[wellnessadvocate.com] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[nursekey.com] […] antiseptics Skin test anergy Severe abdominal pain Diseases Neuraminidase deficiency Amenorrhea Diaphragmatic agenesia Sweet syndrome CAHMR syndrome Hypersensitivity Exudative retinopathy[nhha.org]

  • Acrofacial Dysostosis Type Catania

    Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[mendelian.co] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] Arthrogryposis multiplex congenita, distal type 2 Arthrogryposis multiplex congenita, distal, x-linked Arthrogryposis multiplex congenita Arthrogryposis ophthalmoplegia retinopathy[starrepublic.org]

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