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2,219 Possible Causes for Cutaneous Syndactyly of Digits, Hypertelorism, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Hypertelorism, 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] Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive.[ncbi.nlm.nih.gov] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com]

  • 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] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[ncbi.nlm.nih.gov]

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

    […] brachyphalangy with nail dysplasia, increased stature, increased head circumference, facial asymmetry due to facial nerve palsy, frontal bossing, prognathism, hearing loss, hypertelorism[iofbonehealth.org] 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] MARSHALL SYNDROME; MRSHS Is also known as ; Related symptoms: Autosomal dominant inheritance Short stature Hearing impairment Hypertelorism Nystagmus SOURCES: OMIM UMLS MESH[mendelian.co]

  • 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] Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.[orpha.net] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

    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] We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism,[ncbi.nlm.nih.gov] Abstract Apert syndrome is characterized by hypertelorism, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face.[ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Cenani Syndactylism

    The thumb and second digit showed complete, cutaneous syndactyly.[updoc.site] Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose[ncbi.nlm.nih.gov] Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short[orpha.net]

    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] […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[genedx.com] He had hypertelorism, bilateral telecanthus, and bilateral lower Hd entropion.[healio.com]

    Missing: Microcephaly (2-3 SD)
  • 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] , microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis, Hyperkeratosis, Mental[rgd.mcw.edu] […] syndrome Craniofacial dysostosis with diaphyseal hyperplasia Cervical hypertrichosis peripheral neuropathy Neuronal ceroid lipofuscinosis 3 Osteogenesis imperfecta type I Hypertelorism[checkrare.com]

    Missing: Microcephaly (2-3 SD)
  • 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] Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs.[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)

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