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37 Possible Causes for Brachycephaly, Ear Deformity, Folded Helix

  • Down Syndrome

    […] features Chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21; clinical manifestations include hypotonia, short stature, brachycephaly[icd9data.com] Head: Brachycephaly. Oblique palpebral fissures. Epicanthic folds. Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus.[patient.info]

  • Congenital Contractural Arachnodactyly

    Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[ncbi.nlm.nih.gov] " deformity.[ncbi.nlm.nih.gov] […] contractures -proximal joints marked -internal rotation of the upper extremities-external rotation of the lower extremities-rigidity Skull Oval skull Dolichocephaly Broad skull brachycephaly[fetalultrasound.com]

  • Protuberant Ears

    […] rotation, prominent helix, and protruding earlobe.[link.springer.com] Case reports Case 1: constricted ear A male child was born at full term with bilateral constricted ears. No family history of ear deformity existed.[bmj.com] Sampling 3 YR Gender Male Data Elements Clinical Element Type: Potocki-Shaffer Syndrome (Baseline) Inheritance Parental origin of del(11) Paternal Skull Parietal foramen Yes Brachycephaly[coriell.org]

  • Kaufman Oculocerebrofacial Syndrome

    Ear features include a cup shape with hypoplastic lobe and folded helix, stenosis of the external meatus, and preauricular tags.[jmg.bmj.com] Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Autosomal recessive[rarediseases.info.nih.gov] Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[ncbi.nlm.nih.gov]

  • Skeletal Dysplasia

    Glycine, the smallest amino acid, must be in the third position to allow proper chain folding to occur.[ncbi.nlm.nih.gov] ears, cleft palate, and micrognathia).[ncbi.nlm.nih.gov] The specimen described here dated from 1881 and presented with a general embryonic appearance, disproportionate short stature, brachycephaly, widened cranial sutures, hypertelorism[ncbi.nlm.nih.gov]

  • Bruck Syndrome

    FKBP65 prevents premature cross-links between procollagen chains and assists proper registration, folding into the collagen triple helix, and subsequent trafficking [19],[journals.plos.org] Autopsy report revealed lung hypoplasia, with abnormal rotation of the forearms and hands, cauliflower appearing ears and lower limb deformities as well as the above findings[ashg.org] Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    Complex dysfunction leads to delayed folding of the procollagen triple helix and increased helical modification.[ncbi.nlm.nih.gov] Hearing loss may be caused by deformities of the bones of the inner ear as well as pressure on the auditory nerve because of deformity of its canal in the skull .[britannica.com] Both children had severe asymmetrical brachycephaly documented by laser digital scanning and were submitted to treatment with a cranial remolding orthosis.[ncbi.nlm.nih.gov]

  • Aagenaes Syndrome

    […] fissures, broad nasal bridge, short nose, anteverted nostrils, short philtrum, malformed ears with thickened helix, and a short neck (Fig. 2a ).[bmcpediatr.biomedcentral.com] The midface is flattened secondary to maxillary hypoplasia and deformity of the anterior mandible. The ears are low-set, cup shaped, and floppy.[accessanesthesiology.mhmedical.com] Aagenaes syndromeis characterized by prenatal growth deficiency, brachycephaly, deformities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and[streetdirectory.com]

  • Rieger Syndrome

    A threonine to proline mutation (T68P) in the second helix of the homeodomain retained DNA binding activity with the same apparent KD and only about a 2-fold reduction in[ncbi.nlm.nih.gov] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q13- Congenital[icd10data.com] These patients might have a difficult airway due to facial anomalies, brachycephaly and maxillary hypoplasia.[aeronline.org]

  • CHARGE Syndrome

    & Feeding 70%-90% VII – Facial palsy (one side or both) Images of Facial Palsy 40% Factsheet about CHARGE Outer Ear Short, wide ear with little or no lobe, “snipped off” helix[chargesyndrome.org] Most patients have some deformities of the ear, such as asymmetric ears, small or absent earlobes, malformed middle ear bones, malformed cochleae, and small or absent semicircular[medschool.lsuhsc.edu] ) 759.89 Disease, diseased - see also Syndrome Bruck-de Lange (Amsterdam dwarf, intellectual disabilities, and brachycephaly) 759.89 Cockayne's (microcephaly and dwarfism)[icd9data.com]

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