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28 Possible Causes for Elbow Contracture, Round Face in Infancy, Short Philtrum

  • Cold-Induced Sweating Syndrome Type 1

    […] facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short[forgottendiseases.org] He has bilateral elbow and bilateral finger contractures.[neurology.org] […] of the elbows.[nature.com]

  • Goldberg-Shprintzen Syndrome

    At 2 years, she manifested the described dysmorphism, progressive microcephaly, mildly downward slanting palpebral fissures, a flat occiput, short philtrum, and large ears[jmg.bmj.com] […] 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] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com]

  • Mowat-Wilson Syndrome

    An individual with MWS may also have: Deep set, widely spaced eyes; Characteristic ear shape with a turned-up ear lobe; Broad nasal tip and short philtrum (the vertical central[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] Typical facial features that include: deep-set, widely-spaced eyes thick eyebrows characteristic ear shape with a turned-up ear lobe broad nasal tip and short philtrum (the[contact.org.uk]

  • Baraitser-Winter Syndrome 1

    In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally[bioportfolio.com] 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]

  • Familial Hypospadias

    The baby had prominent glabella, short philtrum, low-set ears, hypospadias, undescended testes and calcaneovalgus deformity of the right foot (Figure 3 ).[bmcpregnancychildbirth.biomedcentral.com] […] 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] Signs and symptoms [ edit ] The most common characteristics include a distinct craniofacial phenotype ( microcephaly , micrognathia , short philtrum , prominent glabella ,[en.wikipedia.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    philtrum Dolichocephaly Cerebral atrophy Joint hyperflexibility Pulmonic stenosis Long face Abnormality of the skin Aortic valve stenosis Abnormal heart valve morphology[mendelian.co] 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]

  • Metaphyseal Acroscyphodysplasia

    […] palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia).[mendelian.co] […] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital[se-atlas.de] […] nose with broad nasal tip, and short philtrum), PHP (roundface, brachydactyly, short stature, obesity, and intellectual im-pairment), and endocrinological abnormality.In[docslide.us]

  • Cole-Carpenter Syndrome

    […] palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia).[mendelian.co] Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal[mendelian.co] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co]

  • Congenital Iris Coloboma

    The nasal tip lengthens and becomes more depressed, the columella is more prominent, leading to the appearance of a short philtrum, the nasal profile becomes convex, the face[ojrd.biomedcentral.com] […] of the hand Overfolded helix Reduced number of teeth Pyloric stenosis Deep philtrum Dermal atrophy Nasal speech Elbow flexion contracture Short thumb Microdontia Microtia[mendelian.co] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com]

  • Autosomal Recessive Distal Osteolysis Syndrome

    […] umbilical cord Peripheral neuropathy Spinal muscular atrophy Large face Dysphagia Babinski sign Short philtrum Thick eyebrow Narrow forehead Sacral dimple Broad eyebrow Hypohidrosis[mendelian.co] […] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov] […] flexion contracture 33 HP:0002987 13 knee flexion contracture 33 HP:0006380 14 osteolytic defects of the distal phalanges of the hand 33 HP:0009839 15 metacarpal osteolysis[malacards.org]

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