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34 Possible Causes for Elbow Contracture, Failure to Thrive, Round Face in Infancy

  • Cold-Induced Sweating Syndrome Type 1

    He has bilateral elbow and bilateral finger contractures.[neurology.org] face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org] […] of the elbows.[nature.com]

  • Weaver Syndrome

    […] of the hand 0009473 Kyphosis Hunched back Round back [ more ] 0002808 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension[rarediseases.info.nih.gov] Pediatr Radiol 5:53–57 Google Scholar Marshall RE, Graham CB, Scott CR, Smith DW (1971) Syndrome of accelerated skeletal maturation and relative failure of thrive: A newly[link.springer.com] Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia[icd10data.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    There may be hyperextensibility of wrist and interphalangeal joints but contractures of elbow and knee.[nature.com] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] He had persistent failure to thrive due to intermittent respiratory tract infection.[indianjotol.org]

  • Mowat-Wilson Syndrome

    Symptons may include: Growth and Motor development delay : speech can be delayed or absent; Seizures in the majority of individuals ( Epilepsy ); Failure to thrive in early[specialeducationalneeds.co.uk] […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] Other features that have been observed in individuals with MWS include: growth, and developmental delay - speech can be delayed or absent failure to thrive in early life congenital[contact.org.uk]

  • Baraitser-Winter Syndrome 1

    contractures were initially regarded as sufficient by Rivière et al 1 to clinically exclude BRWS in two patients previously assigned to FAS.[ncbi.nlm.nih.gov] The face is round and flat in infancy.[ncbi.nlm.nih.gov] […] to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263[rarediseases.info.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    contracture Abnormal tibial torsion Hand dysfunction Kyphosis Lordosis Scoliosis Femoral retroversion Torticollis Hip dysplasia Hip contractures Hallux valgus Knee contractures[pediatrics.aappublications.org] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]

  • Familial Hypospadias

    […] to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypothyroidism, myxomatous mitral valve[embryology.med.unsw.edu.au] […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] […] hypospadias-1 HYSP1 OMIM 300633 X-linked isolated hypospadias-2 HYSP2 OMIM 300758 X-linked isolated hypospadias-3 HYSP3 OMIM 146450 Johanson-Blizzard syndrome [9] - hypospadias, failure[embryology.med.unsw.edu.au]

  • Metaphyseal Acroscyphodysplasia

    Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal[mendelian.co] […] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital[se-atlas.de] thrive.[encyclopedia.com]

  • Cole-Carpenter Syndrome

    Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal[mendelian.co] Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs.[ispub.com] The dietician provides advice on the size and frequency of feeds to ensure that slow growth is not mistaken as a failure to thrive.[dovepress.com]

  • Non-Syndromic Aplasia Cutis Congenita

    […] eyelashes Knee flexion contracture Short long bone Elbow flexion contracture Bowing of the long bones Short thumb Chorea Colpocephaly Opacification of the corneal stroma[mendelian.co] Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive[emedicine.medscape.com] face Aciduria Coma Death in infancy Prominent forehead Bifid first metacarpal Flat face Heterogeneous Malabsorption Areflexia Posteriorly rotated ears Glaucoma Jaundice Pulmonary[mendelian.co]

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