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1,144 Possible Causes for Brachycephaly, Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD)

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

  • 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] […] persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly[ncbi.nlm.nih.gov] The most common phenotypic features, present in more than a third of our patients with TWIST mutations, are coronal synostosis, brachycephaly, low frontal hairline, facial[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • 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] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[ncbi.nlm.nih.gov]

  • Sclerosteosis Type 2

    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] Autism Autistic behavior Rare Symptoms - Less than 30% cases Retrognathia Craniosynostosis Camptodactyly Muscular hypotonia of the trunk High forehead Flexion contracture Brachycephaly[mendelian.co]

  • Scott Bryant Graham Syndrome

    Lorenz et al. (1990) reported what they designated the craniofacial digital syndrome of Scott in a boy whose mother had bilateral cutaneous syndactyly of toes 2 and 3.[omim.org] Related phenotypes are brachycephaly and micrognathia[malacards.org] Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported.[orpha.net]

    Missing: Microcephaly (2-3 SD)
  • Craniosynostosis

    Abnormal extremities (broad, laterally deviated first digits, 2/3 cutaneous syndactyly and brachydactyly) are variable and only occasionally diagnostic.[nature.com] Of the 35 patients, 12 were for plagiocephaly, 7 for brachycephaly, 10 for scaphocephaly, 4 for trigonocephaly, and 2 for combined coronal and metopic synostosis.[ncbi.nlm.nih.gov] The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping[ncbi.nlm.nih.gov]

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

    Skeletal defects: syndactyly, polydactyly, ectrodactyly, hypoplasia of the digits, and vertebral abnormalities like scoliosis, kyphosis, vertebral body fusions, and spina[vivavoceoralmedicineradiology.com] Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development.[ncbi.nlm.nih.gov] Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III): Rare inherited disorder characterized by craniosynostosis (plagiocephaly and/or brachycephaly).[accessanesthesiology.mhmedical.com]

    Missing: Microcephaly (2-3 SD)
  • Cerebellotrigeminal Dermal Dysplasia

    syndactyly between toestwo and three and four and five (Fig. 5C).[documents.tips] Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion[ncbi.nlm.nih.gov] Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Baller-Gerold Syndrome

    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] Clinical description Craniosynostosis and radial ray anomalies present at birth and are associated with facial dysmorphism (brachycephaly, ocular exophthalmia, frontal bossing[orpha.net] Because of the changes in how the bones of the skull are connected together, people with BGS will have an abnormally shaped head, known as brachycephaly.[en.wikipedia.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] Apert syndrome is a rare disorder characterized by coronal craniosynostosis, syndactyly, brachycephaly, midfacial hypoplasia, and central nervous system anomalies, among other[ncbi.nlm.nih.gov] The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Isolated Agammaglobulinemia

    Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations.[mendelian.co] […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org] […] chest Arthrogryposis multiplex congenita Coma Pectus carinatum Carcinoma Skeletal dysplasia Joint laxity EEG abnormality Macrotia Prominent forehead Severe short stature Brachycephaly[mendelian.co]

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