Create issue ticket

36 Possible Causes for Delayed Closure of Fontanelles, Hypertelorism, Partial Syndactyly of Fingers and Toes

  • Saethre-Chotzen Syndrome

    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] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[ncbi.nlm.nih.gov] closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    Affiliated tissues include bone, skin and tongue, and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition[malacards.org] In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[rarediseases.org] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com]

  • Apert Syndrome

    We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism,[ncbi.nlm.nih.gov] Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded.[ncbi.nlm.nih.gov] Craniosynostosis can lead to acrobrachycephaly or turribrachycephaly with delayed closure of fontanels and a possible impact on brain growth and neurological development.[orpha.net]

  • Hypertelorism

    Because hypertelorism is often associated with syndromes like Apert, hypertelorism is often seen in combination with midface dysplasia.[en.wikipedia.org] Limb manifestations consist of splitting of nails (40%), broad great toes, partial syndactyly of fingers and toes, hy-perextensible joints, short 5th fingers, clinodactyly[rrnursingschool.biz] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[ncbi.nlm.nih.gov]

  • Familial Scaphocephaly Syndrome

    Definition An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability[uniprot.org] Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits.[ab-y-ss.com] Unusual raised ridges on the skull Premature closure of sutures; Synostosis; Plagiocephaly; Scaphocephaly; Fontanelle - craniosynostosis; Soft spot - craniosynostosis Centers[medlineplus.gov]

  • Frontonasal Dysplasia

    The correction of hypertelorism was performed with orbital rotation surgery when he was thirteen years old.[ncbi.nlm.nih.gov] Great toes were broad, and there was partial syndactyly of second, third and fourth toes bilaterally. Clinodactyly of both the fifth toe was obvious [Figure 1c].[mjdrdypu.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]

  • Pelviscapular Dysplasia

    UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism[malacards.org] […] of the 3rd and 4th Trisomy 17p11.2 Branchio-Oto-Renal Duane fingers and bilateral partial hydrocephalus contiguous gene syndactyly of 2nd and 3rd toes syndrome Myoclonic[yumpu.com] Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[nectarmutation.org]

  • Acrocephaly

    […] picture of acrocephaly 1 or related craniostenoses includes a characteristic pattern of facial deformity, consisting primarily of exophthalmos, aplastic, recessed maxilla, and hypertelorism[jamanetwork.com] Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[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]

  • Craniofrontonasal Dysplasia

    […] to correct the hypertelorism.[childrens.com] Great toes were broad, and there was partial syndactyly of second, third and fourth toes bilaterally. Clinodactyly of both the fifth toe was obvious [Figure 1c].[mjdrdypu.org] A very large anterior fontanelle with delayed closure was present in 6/18.[nature.com]

  • Craniosytosis Type 4

    [from HPO ] Hypertelorism MedGen UID: 9373 • Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples[ncbi.nlm.nih.gov] Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome.[facesofchildren.org] .  Cutaneous syndactyly, usually partial, frequently occurs and involves the second and third fingers and/or the third and fourth toes [44].[slideshare.net]

Similar symptoms