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24 Possible Causes for Beaked Nose, Delayed Closure of Fontanelles, 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] The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus[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]

  • 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] nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption[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]

  • Trisomy 8q

    Less commonly, partial webbing (syndactyly) of certain fingers and toes and dislocation of the hips at birth have been noted.[rarediseases.org] * Beaked nose * Broad nasal base * Flat nasal root * Anteverted nostrils * Bulbous nasal tip * Epicanthal folds * Long philtrum * Large mouth * Down turned corners of mouth[checkorphan.org] In some cases, trisomy 9p may be associated with skeletal defects including delayed closure of the “soft spots” (fontanels) and the fibrous joints (cranial sutures) between[rarediseases.org]

  • 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] Affected individuals have distinct facial featurs like bulging ees, beaked nose, and underdeveloped jaws. Apert syndrome is similar to Crouzon syndrome.[abcore.com] Unusual raised ridges on the skull Premature closure of sutures; Synostosis; Plagiocephaly; Scaphocephaly; Fontanelle - craniosynostosis; Soft spot - craniosynostosis Centers[medlineplus.gov]

  • Lenz-Majewski Syndrome

    In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[rarediseases.org] Causes - Short stature- cranial hyperostosis- hepatomegaly and diabetes Other Possible Causes of these Symptoms * Beaked nose * Curved fifth finger * Diabetes * Enlarged liver[checkorphan.org] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com]

  • Craniosynostosis

    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] Short forehead, beaked nose, ptosis, incomplete syndactyly. Carpenter’s: Craniosynostosis diagnosis and treatment[ohsu.edu] 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]

  • Acrocephaly

    Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[rarediseases.org] nose, and hypoplastic maxilla with relative mandibular prognathism. 2, record 4, English, - parrot%2Dbeaked%20nose Record 4, French Record 4, Domaine(s) Symptômes (Médecine[btb.termiumplus.gc.ca] , 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]

  • Craniosytosis Type 4

    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] nose; and an underdeveloped upper jaw.[ncbi.nlm.nih.gov] .  Cutaneous syndactyly, usually partial, frequently occurs and involves the second and third fingers and/or the third and fourth toes [44].[slideshare.net]

  • 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] nose, and hypoplastic maxilla with relative mandibular prognathism Premature closure of one or more sutures of the skull 756.0 Excludes Applies To Absence of skull bones[icd9data.com] 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]

  • Micrognathism

    […] soft tissue syndactyly of the fingers and toes involving interdigital spaces 2 to 4, and bilateral talipes equinovarus.[findzebra.com] Clinically affected; history of bilateral carotid dissection; multiple strokes; joint pain in the neck; neck mobility limited in all directions; muscle weakness on the left side; beaked[coriell.org] Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Short stature HEAD AND NECK: [Head]; Large anterior fontanel; Delayed closure anterior fontanel; [Face]; Micrognathia[findzebra.com]

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