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5,009 Possible Causes for Cutaneous Syndactyly of Digits, Mental Retardation, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Mental Retardation, Microcephaly (2-3 SD

  • Malpuech Syndrome

    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] Abstract In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities[doi.org] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com]

  • Kaufman Oculocerebrofacial Syndrome

    […] 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] The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral[ncbi.nlm.nih.gov] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    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] Strikingly, all these patients were severely mentally retarded, which is otherwise a rare finding in Saethre-Chotzen syndrome.[ncbi.nlm.nih.gov] The occurrence among 13 siblings of a malformation-mental retardation syndrome and diverse malignancies was investigated for etiologic relationship by clinical, genetic, immunologic[ncbi.nlm.nih.gov]

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

    (OMIM phenotype number #615716 ) Hyperphosphatasia with mental retardation syndrome 4 (HPRMS4) is a rare autosomal recessive form of HPRMS (see also HPMRS1).[iofbonehealth.org] Individuals with craniodiaphyseal dysplasia often are affected by mental retardation.[encyclopedia.com] ZTTK SYNDROME; ZTTKS Is also known as zhu-tokita-takenouchi-kim syndrome, zttk multiple congenital anomalies-mental retardation syndrome; Related symptoms: Autosomal dominant[mendelian.co]

  • Chromosome 19q13.11 Deletion Syndrome

    […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[rarediseases.info.nih.gov] […] with abnormal mental development were found to carry deletions in the 19q13.2 region. 8 The data point to the presence of a gene responsible for mental retardation linked[jmg.bmj.com] […] motor retardation Cytogenetics del(13)(q32q33.2) Nota bene: 13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance[humpath.com]

    Missing: Microcephaly (2-3 SD)
  • Microcephaly

    No clear consensus has been established regarding the management of oral cancer in patients with mental retardation.[ncbi.nlm.nih.gov] […] those with milder microcephaly (-2 to -3 SD; approximately 40%).[ncbi.nlm.nih.gov] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3 .[centogene.com]

    Missing: Cutaneous Syndactyly of Digits
  • Fraser Syndrome

    Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects.[ncbi.nlm.nih.gov] The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation.[ncbi.nlm.nih.gov] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[checkorphan.org]

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

    Apert syndrome is characterized by a triad of craniosynostosis, craniofacial dysmorphism and cutaneous and osseous syndactyly of the digits.[doi.org] Andere Ausgaben - Alle anzeigen Medical aspects of mental retardation Charles H.[books.google.com] The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes).[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Lenz-Majewski Syndrome

    Delayed closure of fontanelle, proximal symphalangism, short digits, partial syndactyly, prominent cutaneous veins, loose and wrinkled atrophic skin of hands, skin hypoplasia[accessanesthesiology.mhmedical.com] Lenz-Majewski syndrome - congenital anomalies, mental retardation, sclerosis of the skeletal system.[medical-dictionary.thefreedictionary.com] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com]

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

    syndactyly between digits two and three had been repaired—these digits were of normal size but the thumb was camptodactylous and dislocated at the metacarpophalangeal joint[docksci.com] Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[cags.org.ae] Interestingly these were three patients who also had mental retardation. 6 7 Except for a male with familial TBS, mental retardation, scoliosis, and spina bifida occulta 6[jmg.bmj.com]

    Missing: Microcephaly (2-3 SD)

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