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13 Possible Causes for Blue Green Irides, low set, Malformed Ears

  • Noonan Syndrome

    Many children have strikingly blue/green irides and curly or woolly hair. The arms may be held at an unusual angle - cubitus valgus.[patient.info] This condition is associated with short stature, heart defects, bleeding disorders, delayed puberty, and skeletal malformations.[columbiadoctors.org] […] nipples, undescended testicles, abnormal facial characteristics (e.g., bright blue or green colored iris, wide-spaced eyes, low-set fleshy ears).[symptoma.com]

  • Anotia

    Also multiple pigmentary abnormalities which include hypo pigmentation of the fundi, a white forelock, partial albinism, early greying, and blue irides ...[ibis-birthdefects.org] - Ear Malformation : absence, hypoplasia or lack of fusion of any part (specify) of the ear pinnae.; Anotia/microtia: a congenital malformation characterized by absent parts[en.atlaseclamc.org] The pinnae can be large and are sometimes low-set. Inconsistent short limbs with hip dysplasia and femoral bowing have been reported. Brachydactyly is also a feature.[disorders.eyes.arizona.edu]

  • Acrootoocular Syndrome

    Also multiple pigmentary abnormalities which include hypo pigmentation of the fundi, a white forelock, partial albinism, early greying, and blue irides ...[ibis-birthdefects.org] Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[orpha.net] Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of teeth ; Kyphoscoliosis ; Low-set[mousephenotype.org]

  • Baraitser-Winter Syndrome 1

    Many children have strikingly blue/green irides and curly or woolly hair. The arms may be held at an unusual angle - cubitus valgus.[patient.info] Only a few of them only had imaging of the inner ear, which demonstrated cochlear malformations in one case.[doi.org] The ears are low-set and the skull may be somewhat misshapen. The hairline in the back of the skull is unusually low. Imaging of the brain reveals multiple deformities.[disorders.eyes.arizona.edu]

  • Conductive Deafness - Malformed External Ear Syndrome

    Also multiple pigmentary abnormalities which include hypo pigmentation of the fundi, a white forelock, partial albinism, early greying, and blue irides ...[ibis-birthdefects.org] Overview Conductive deafness - malformed external ear: A rare disorder characterized by hearing loss and external ear malformations.[checkorphan.org] A.: Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. J. Med.[link.springer.com]

  • Williams Syndrome

    Infants have full cheeks and a flat facial profile, whereas older children and adults often have a long narrow face and a long neck. 10,11 Blue- and green-eyed children with[pediatrics.aappublications.org] Bowel and bladder problems Chiari I malformation Chronic ear infections Dental problems Feeding problems GI problems (GE reflux, constipation) Heart defects (mostly narrowing[urmc.rochester.edu] Distinct “elfin” facial features comprising of low set nasal bridge, broad nasal tip, broad forehead and broad lips.[symptoma.com]

  • Noonan Syndrome with Multiple Lentigines

    Ocular hypertelorism, down-slanting palpebral fissures, ptosis, bluegreen irides, short nose with a wide base and depressed nasal bridge, low-set and posteriorly angulated[nature.com] The ears are often malformed (87%). Thoracic skeletal anomalies have been described in 75% of patients.[disorders.eyes.arizona.edu] : Hearing loss in about 25% of patients Short stature in about 1/3 of patients Mild degree of mental retardation in about 30% of patients Craniofacial abnormalities (eg, low[dermnetnz.org]

  • LEOPARD Syndrome

    Ocular hypertelorism, down-slanting palpebral fissures, ptosis, bluegreen irides, short nose with a wide base and depressed nasal bridge, low-set and posteriorly angulated[nature.com] The ears are often malformed (87%). Thoracic skeletal anomalies have been described in 75% of patients.[disorders.eyes.arizona.edu] Signs and Symptoms: Distinctive facial features: widely set eyes, low set ears.[care.com]

  • LEOPARD Syndrome

    Ocular hypertelorism, down-slanting palpebral fissures, ptosis, bluegreen irides, short nose with a wide base and depressed nasal bridge, low-set and posteriorly angulated[nature.com] The ears are often malformed (87%). Thoracic skeletal anomalies have been described in 75% of patients.[disorders.eyes.arizona.edu] Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile.[ncbi.nlm.nih.gov]

  • Neurofibromatosis-Noonan Syndrome

    Many children have strikingly blue/green irides and curly or woolly hair. The arms may be held at an unusual angle - cubitus valgus.[patient.info] NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears.[genome.jp] […] nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set[orpha.net]