Signs / Symptoms (46)
Craniofacial |
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Broad or divided nasal tip |
Lip pits |
Microcephaly |
Micrognathia |
Microtia |
Orbital cyst |
Posterior auricular pit |
Preauricular pit |
Premature graying of hair |
Rotated ears |
Genitourinary |
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Renal agenesis |
Growth |
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Postnatal growth deficiency |
Prenatal growth deficiency |
Hands |
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Preaxial polydactyly |
Transverse palmar crease |
Hearing |
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Deafness |
Hypoplastic superior helix |
Over-folded or malformed ears |
Sensorineural hearing loss |
Supra-auricular sinuses |
Limbs Abnormality |
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Clinodactyly |
Polydactyly |
Neurologic Abnormality |
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Facial nerve palsy |
Ocular |
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Cataract |
Colobomata |
Lacrimal duct obstruction |
Microphthalmia/anophthalmia |
Myopia |
Ptosis |
Strabismus |
Telecanthus |
Upward slant to palpebral fissures |
Oral |
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Abnormal upper lip |
Cleft palate |
Dental abnormalities |
Incomplete or complete cleft lip |
Performance |
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Mental retardation |
Respiratory |
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Atrophic |
Hemangiomatous lesion |
Sinus/fistulous tract |
Skin lesion |
Skin |
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Aplasia cutis congenita |
Ectopic dermal thymus in cervical region |
Skin scarring |
Subcutaneous cysts of the scalp |
White forelock |