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3,989 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD), Short Stature

Did you mean: Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD, Short Stature

  • Saethre-Chotzen Syndrome

    Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet.[ncbi.nlm.nih.gov] Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present.[orpha.net] Supplementary skeleton anomalies consist of unusual vertebral shape, hyperlordosis or scoliosis and short stature.[symptoma.com]

    Missing: Microcephaly (2-3 SD)
  • Sclerosteosis Type 2

    Most common symptoms of CRANIODIAPHYSEAL DYSPLASIA; CDD Autosomal recessive inheritance Intellectual disability Short stature Depressed nasal bridge Wide nasal bridge More[mendelian.co] Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org] Decreased bone or cartilage growth usually leads to disproportionate short-stature – this differs to proportionate short stature for example seen in growth hormone deficiency[powerofthegene.com]

  • Chromosome 19q13.11 Deletion Syndrome

    […] nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short philtrum 0000322 Short stature Decreased[rarediseases.info.nih.gov] Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3[humpath.com] At 22 months of age the boy had relatively short extremities, slight macrocephaly ( 2 SD), and short stature ( 3 SD).[jmg.bmj.com]

    Missing: Microcephaly (2-3 SD)
  • Malpuech Syndrome

    stature syndrome Ouvrier Billson syndrome Short rib-polydactyly syndrome type 3 Oculocutaneous albinism type 1 Bardet-Biedl syndrome 3 Autosomal dominant partial epilepsy[checkrare.com] There were five shortened fingers in both hands, all fingers being abnormally widely separated despite partial cutaneous syndactyly of digits 2/3 and 4/5 bilaterally.[slideheaven.com] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com]

  • Kaufman Oculocerebrofacial Syndrome

    Sibylla Achermann, Remo Largo, Dieter Kotzot, Mariluce Riegel and Albert Schinzel, Short stature, myopia, severe developmental delay, and peculiar facial appearance in two[doi.org] […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] He has had three hand surgeries with the purpose of establishing a phalangeal pincer grasp due to partial cutaneous syndactyly of the 2nd and 3rd digit of the left hand and[casereports.in] A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus.[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Pallister-Hall Syndrome

    We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth[ncbi.nlm.nih.gov] Some patients have mild partial cutaneous syndactyly of a few digits and this spectrum continues through to complete cutaneous syndactyly of all digits, not unlike that seen[ojrd.biomedcentral.com] Burren CP, Wertheer GA, 1996 Skeletal dysplasias: response to growth hormone therapy. J Pediatr Endocrionol Metab 9: 31-40. 76.[hormones.gr]

    Missing: Microcephaly (2-3 SD)
  • Thalassemia

    For instance, patients may be of short stature or have bone deformities or impaired fertility—all of which could affect how they think of themselves and how they think others[celgene.com] Other abnormalities of the fingers and toes were also observed: clinodactyly, brachydactyly, tapering of the fingers, drum stick phalanges, cutaneous syndactyly, overlapping[ojrd.com] Endocrine dysfunction secondary to iron overload is common in multiply transfused patients, manifesting as hypogonadotrophic hypogonadism, short stature, acquired hypothyroidism[patient.info]

    Missing: Microcephaly (2-3 SD)
  • Gorlin-Chaudhry-Moss Syndrome

    Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly[ncbi.nlm.nih.gov] Skeletal defects: syndactyly, polydactyly, ectrodactyly, hypoplasia of the digits, and vertebral abnormalities like scoliosis, kyphosis, vertebral body fusions, and spina[vivavoceoralmedicineradiology.com] Patients present with either normal intelligence or mild mental retardation and short stature.[accessanesthesiology.mhmedical.com]

    Missing: Microcephaly (2-3 SD)
  • Dysequilibrium Syndrome

    stature.[ncbi.nlm.nih.gov] Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] RESULTS: Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature.[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits

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