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428 Possible Causes for Broad, Prominent Forehead, Delayed Closure of Fontanelles, Partial Syndactyly of Fingers and Toes

  • Cleidocranial Dysplasia

    Other symptoms can include: Ability to touch shoulders together in front of body Delayed closure of fontanelles ("soft spots") Loose joints Prominent forehead ( frontal bossing[nlm.nih.gov] Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination.[ncbi.nlm.nih.gov] 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] Clinical features large head, with large fontenelles with delayed closure broad mandible supernumerary teeth high arched palate neonatal distress due to thorax being narrowed[web.archive.org]

    Missing: Partial Syndactyly of Fingers and Toes
  • Saethre-Chotzen Syndrome

    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] She was severely mentally retarded, had brachycephaly, craniosynostosis, prominent forehead, proptosis, midface hypoplasia, low-set and small ears, a high arched palate, broad[link.springer.com] […] skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad[ncbi.nlm.nih.gov] […] skin syndactyly between the finger) and the patients demonstrated triangular hypertrophied great toes with valgus deformity (contrary to Pfeiffer syndrome).[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[rarediseases.org] forehead Pronounced forehead Protruding forehead [ more ] 0011220 Prominent scalp veins 0001043 Proximal symphalangism of hands Fused innermost hinge joints 0006152 Relative[rarediseases.info.nih.gov] Skeletal changes included calvarial hyperostosis, sclerosis of the skull base, an enlarged, sclerotic mandible, broad clavicles and ribs, and diaphyseal undermodeling of the[ncbi.nlm.nih.gov] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com]

  • Hypertelorism

    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] A 34-month-old boy presented with clinical manifestations of Teebi hypertelorism syndrome including prominent forehead with frontal bossing, hypertelorism, exophthalmos due[ncbi.nlm.nih.gov] We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate[ncbi.nlm.nih.gov] 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]

  • Craniofrontonasal Dysplasia

    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] Main features of this condition include widely spaced eyes (hypertelorism), broad-tipped nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry[diseaseinfosearch.org] Males had increased bony interorbital distances and distances between the inner canthi of the eyes, broad nasal root, broad halluces, and vertical grooving of nails but no[ncbi.nlm.nih.gov] A very large anterior fontanelle with delayed closure was present in 6/18.[nature.com]

  • Frontonasal Dysplasia

    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] […] and wide nasal ridge, broad columella and smooth philtrum.[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] Symptoms often vary, however more common symptoms include wide spaced eyes, a widow's peak, and a broad nose.[rarediseases.info.nih.gov]

  • Familial Scaphocephaly Syndrome

    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] Some babies will develop a prominent forehead (also called frontal bossing).[chla.org] His mother (III:24) has a broad great toe and partial 2,3 syndactyly of the toes.[jmg.bmj.com] Unusual raised ridges on the skull Premature closure of sutures; Synostosis; Plagiocephaly; Scaphocephaly; Fontanelle - craniosynostosis; Soft spot - craniosynostosis Centers[medlineplus.gov]

  • Autosomal-Recessive Robinow Syndrome

    […] thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Broad toe Wide toe 0001837 Clinodactyly Permanent curving of the finger 0030084 Clitoral hypoplasia Small clitoris Underdeveloped[rarediseases.info.nih.gov] bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Kyphosis - Long philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears[csbg.cnb.csic.es] Symptoms of Robinow syndrome Permanent signs of the disease are: microcephaly; broad nasal bridge; prominent forehead; short nose, inverted front nostril; mouth triangular[health-and-beaty.blogspot.com] The syndrome can affects several systems which include: mesomelic limb shortening : mesomelia hemivertebrae characteristic facies anomalies fetal facies hypertelorism 3 frontal[radiopaedia.org]

    Missing: Partial Syndactyly of Fingers and Toes
  • Kenny-Caffey Syndrome Type 1

    She was noted to have prominent forehead, small deep-set eyes, beaked nose, broad cheeks, and micrognathia.[updoc.site] bossing with a triangular face.[malacards.org] Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[uniprot.org] […] infantile, 3 609304 S LC26A2 5q32 Achondrogenesis Ib 600972 Atelosteogenesis II 256050 De la Chapelle dysplasia 256050 Diastrophic dysplasia 222600 Diastrophic dysplasia, broad[institutobernabeu.com]

    Missing: Partial Syndactyly of Fingers and Toes
  • Apert Syndrome

    Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded.[ncbi.nlm.nih.gov] 80%-99% of people have these symptoms Acrobrachycephaly 0004487 Brachyturricephaly High, prominent forehead 0000244 Broad forehead Increased width of the forehead Wide forehead[rarediseases.info.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] Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[rarediseases.org]

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