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547 Possible Causes for Cutaneous Syndactyly of Digits, Delayed Closure of Fontanelles, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Delayed Closure of Fontanelles, Microcephaly (2-3 SD

  • Sclerosteosis Type 2

    […] puberty Capillary hemangioma High iliac wings Sutural cataract Narrow iliac wings Hypoplasia of teeth Delayed closure of the anterior fontanelle Decreased skull ossification[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] closure of the anterior fontanel, underdeveloped paranasal sinuses, small mandible with hypoplasia of the coronoid process, and wide angle and thinning of the mandibular[rrnursingschool.biz]

  • 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] closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[ncbi.nlm.nih.gov] Abstract A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed[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] Spanish displasia de Lenz - Majewski English Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis[mymemory.translated.net] The radiographic features of the LMHD skeleton include delayed closure of the anterior fontanel with progressive osteosclerosis of the skull, including the petrous bones and[docksci.com]

    Missing: Microcephaly (2-3 SD)
  • Cleidocranial Dysplasia

    Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium[ncbi.nlm.nih.gov] We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles[ncbi.nlm.nih.gov] CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles.[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits 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] Craniosynostosis can lead to acrobrachycephaly or turribrachycephaly with delayed closure of fontanels and a possible impact on brain growth and neurological development.[orpha.net] 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)
  • Kenny-Caffey Syndrome Type 1

    Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[uniprot.org] OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of[malacards.org] […] the anterior fontanel, eye abnormalities, and transient hypocalcemia.[malacards.org]

    Missing: Cutaneous Syndactyly of Digits 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] Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal[ncbi.nlm.nih.gov] , delayed closure - see also Fistula Diastasis Dilatation fontanel 756.0 Disease, diseased - see also Syndrome Crouzon's (craniofacial dysostosis) 756.0 Friedreich's Distortion[icd9data.com]

    Missing: Microcephaly (2-3 SD)
  • Cole-Carpenter Syndrome

    Individuals affected by Carpenter syndrome often experience cutaneous syndactyly (fusion of the digits) or polydactyly (presence of extra digits) of the toes more often than[en.wikipedia.org] Dysosteosclerosis – disproportional short stature, deafness, blindness, delayed closure anterior fontanelle, frontal bossing, delayed tooth eruption, osteosclerosis, platyspondyly[clinicaladvisor.com] There may be partial fusion of the soft tissues (cutaneous syndactyly) between certain fingers, particularly the third and fourth digits.[rarediseases.org]

    Missing: Microcephaly (2-3 SD)
  • Acrocephaly

    The syndactyly may involve soft tissues only (cutaneous syndactyly) or include fusion of bone (osseous syndactyly).[rarediseases.org] , delayed closure - see also Fistula Diastasis Dilatation fontanel 756.0 Disease, diseased - see also Syndrome Crouzon's (craniofacial dysostosis) 756.0 Friedreich's Distortion[icd9data.com] Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[rarediseases.org]

    Missing: Microcephaly (2-3 SD)
  • Vitamin D Deficiency

    […] dentition, delayed anterior fontanelle closure Investigations Infants Infants: Exclusively breastfed infants with at least one other risk factor without symptoms/signs -[rch.org.au] […] tooth eruption (no incisors by aged 10 months, no molars by age 18 months) - Craniotabes (softening of skull bones) - Delayed closure of anterior fontanelle - Frontal bossing[starship.org.nz] In older infants with rickets, sitting and crawling are delayed, as is fontanelle closure; there is bossing of the skull and costochondral thickening.[merckmanuals.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)

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