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21 Possible Causes for Delayed Closure of Fontanelles, Partial Syndactyly of Fingers and Toes, Short Stature in Children

  • 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] closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[ncbi.nlm.nih.gov] In addition to fused sutures, children with Saethre Chotzen syndrome also have a characteristic low-set hairline, a “beaked” nose and short stature.[mercy.net]

  • Cornelia De Lange Syndrome

    […] clinodactyly (curved 5th finger) Abnormal palmar crease Radial head dislocation/abnormal elbow extension Short 1st metacarpal/proximally placed thumb Bunion Partial 2,3 syndactyly[medicalhomeportal.org] 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] Cornelia de Lange Syndrome Definition [ edit ] Cornelia de Lange Syndrome is a rare developmental malformation syndrome characterized by mental retardation, short stature,[en.wikibooks.org]

  • 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] Craniosynostosis can lead to acrobrachycephaly or turribrachycephaly with delayed closure of fontanels and a possible impact on brain growth and neurological development.[orpha.net] Children with Apert syndrome may have mental deficiencies, short stature, hearing impairment, frequent ear infections, prominent and/or bulging eyes, a large or late-closing[consultant360.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] 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] Skeletal anomalies such as short stature, high palate, craniosynostosis, scoliosis, pes planus, hand contractures, and joint hypermobility have been reported.[disorders.eyes.arizona.edu]

  • Weismann Netter Syndrome

    syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals[zdoc.site] Radiographic examination shows an increased density of bone of the entire skeleton, osteosclerosis, delayed closure of cranial sutures, wormian bones, open fontanels and hypoplastic[hormones.gr] In 1954, Weismann-Netter and Stuhl described three sporadic adults and a mother and her three children with short stature and congenital anterior bowing of lower legs [Weismann-Netter[ncbi.nlm.nih.gov]

  • Acrocephaly

    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] Short stature and no physiologic spinal curvature are observed. Children are straight as a reed. Refer to the following images.[emedicine.medscape.com]

  • Cole-Carpenter Syndrome

    […] and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly[rarediseases.org] Dysosteosclerosis – disproportional short stature, deafness, blindness, delayed closure anterior fontanelle, frontal bossing, delayed tooth eruption, osteosclerosis, platyspondyly[clinicaladvisor.com] Many children have heart problems, short stature and a tendency to being overweight. Children may have genital abnormalities such as undescended testicles in males.[gosh.nhs.uk]

  • Micrognathism

    […] soft tissue syndactyly of the fingers and toes involving interdigital spaces 2 to 4, and bilateral talipes equinovarus.[findzebra.com] This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation.[ncbi.nlm.nih.gov] University of Londrina (HU-UEL) – Londrina (PR), Brazil ABSTRACT Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children[scielo.br]

  • Boomerang Dysplasia

    Partial or complete syndactyly of fingers and toes is another consistent finding.[docslide.com.br] Many advocates of short stature individuals believe that the affected individual should have the maturity and independence to determine if they desire limb lengthening, and[nature.com] She had bilateral fixed clubfeet deformities with partial syndactyly of toes 2/3 on the right (Fig. 10f and g ).[bmcmedgenet.biomedcentral.com]

  • 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] A very large anterior fontanelle with delayed closure was present in 6/18.[nature.com] Most common symptoms of CRANIOFRONTONASAL SYNDROME; CFNS Intellectual disability Global developmental delay Short stature Generalized hypotonia Hearing impairment More info[mendelian.co]

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