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