Create issue ticket

13 Possible Causes for broad, Dysplastic Pinnae, Low Nasal Bridge

  • Blepharophimosis

    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] In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge[en.wikipedia.org] , thick, simple or overfolded pinnae, thick, swollen cheeks, and retrognathia.![healthdocbox.com]

  • Hunermann Conradi Syndrome

    Oak Park, IL 60302 Tel: (708)383-0808 Fax: (708)383-0899 Tel: (800)362-4423 Email: mar[email protected] Internet: Foundation for Ichthyosis & Related Skin Types 2616 N Broad[metrohealth.net] nasal bridge Cataracts Sparse, coarse scalp hair Abnormal thickening, dryness, and scaling of the skin How is Conradi-Hünermann syndrome diagnosed?[patientworthy.com] A newborn female baby presented with abnormal facial features, hoarse cry, lax skin, dolichocephaly, dysplastic pinna, syndactyly, polydactyly, short limbs and cataract.[ijri.org]

  • Fraser Syndrome

    […] nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width[rarediseases.info.nih.gov] The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares,[ncbi.nlm.nih.gov] Other facial abnormalities included a low hairline, broad nose with depressed nasal bridge, low-set ears and hypertelorism (increased distance between the two eyes).[academic.oup.com]

  • Wolf Hirschhorn Syndrome

    The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and[ncbi.nlm.nih.gov] Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism[ncbi.nlm.nih.gov] pinnae, protruding tongue Cardiac : congenital heart defects ( AVSD , VSD, Tetralogy of Fallot, ASD, PDA) MSK : hands (single transverse palmar crease, broad hands, fifth[pathophys.org]

  • Epicanthal Folds

    CRC Press , 23.07.2007 - 288 Seiten Unlike any other source on the subject, this broad-ranging guide discusses the pathology, diagnosis, and treatment of 120 eyelid disorders[books.google.de] […] epicanthic fold), and low nasal bridge.[medgen.genetics.utah.edu] […] ear, small, low-set, lopped pinnae Simian crease (60%) A single deep crease across the center of the palm Hyperextensible joints Clinodactyly (Dysplastic middle phalanx)[en.wikibooks.org]

  • Rhizomelic Chondrodysplasia Punctata Type 3

    […] onset to the final state showing how the altered biology leads to progressively greater clinical deformity * Initial chapter focuses on development bone biology stressing a broad[books.google.com] Symptoms - Rhizomelic chondrodysplasia punctata- type 3 Slow growth Mental retardation Spasticity Small head Low nasal bridge Causes - Rhizomelic chondrodysplasia punctata[checkorphan.org] A newborn female baby presented with abnormal facial features, hoarse cry, lax skin, dolichocephaly, dysplastic pinna, syndactyly, polydactyly, short limbs and cataract.[ijri.org]

  • Isolated Cryptophthalmia

    Her physical examination showed total unilateral cryptophthalmos (left side), epiphora (right side) with mucopurulent discharge, depressed nasal bridge, low set ears, atresia[experts.umich.edu] The craniofacial examination showed prominent forehead, opened anterior fontanelle 7x4cm, depressed nasal bridge, broad nose with midline nasal groove, bilateral CO with presence[sudjms.net] The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares,[cambridge.org]

  • Craniosytosis Mental Retardation Syndrome of Lin and Gettig

    Some affected individuals may have syndactyly involving the fifth toes and the great toes; unusually broad, deviating great toes (hallux varus); or other bony abnormalities[rarediseases.org] Underdevelopment of the midface results to down slanting, low set and wide set eyes; a tiny upper jaw bone; and a low placed nasal bridge.[syndromespedia.com] , hydronephrosis, hydroureter, urethral stenosis, reflux Ears Deafness (usually conductive), abnormal or absent pinna, prominent ears, abnormally positioned ears (low set)[healio.com]

  • Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome

    Facial signs include a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthal folds, a small mouth, and low-set ears.[codelay.com] Advanced Nutrition and Dietetics in Gastroenterology provides informative and broad-ranging coverage of the relation between nutrition and diet and the gastrointestinal tract[books.google.it] He had bilateral small dysplastic pinnae, flat nasal bridge, hypoplastic middle toe of right foot and dysplastic finger and toe nails (Fig. 1).[indianpediatrics.net]

  • Hyperphosphatasia with Mental Retardation Syndrome 3

    The forehead is narrow, the nasal tip is broad, the nasal bridge is depressed, and the ears are low-set and posteriorly rotated.[disorders.eyes.arizona.edu] (d and e) Facial dysmorphism of a patient with HPMRS3 at the age of 2 years includes wide palpebral fissures, a short nose with a broad nasal bridge, a tented upper lip, and[iofbonehealth.org] pinnae.[link.springer.com]

Similar symptoms