- ... facial dysmorphism, and mental retardation, see Genitopatellar syndrome Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO syndrome ...
- ... related-gene></related-gene-list><synonym-list ><synonym >Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate</synonym><synonym >Radial ...
- ... as most affected individuals have very small or absent eyes, which are thus morphologically unclassifiable. Optic fissure closure defects have been reported but are not ...
- ... of the condition. Other Names for This Condition Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Radial and patellar ...
- ... title >RAPADILINO syndrome</title><other_names ><other_name >Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate</other_name><other_ ...
- ... of the globe and narrowing of the palpebral fissure on adduction. The abducens nucleus and nerve (cranial nerve VI) are absent and the lateral rectus muscle is innervated by ...
- ... The eyeballs may be abnormally small ( microphthalmia ) or absent ... palpebral fissures ), large ears, a short nose with upturned nostrils, ...
- ... and face. Affected individuals often have underdeveloped or absent nasal bones ... (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), and a ...
- ... extreme microcephaly and lissencephaly with hemispheres lacking primary fissures and olfactory sulci. Mainly diagnosed by prenatal MRI, findings at a median age of 25 weeks’ gestation include microcephaly, absent to poorly operculized cortex, virtually no visible gyration, ...
- ... absent 5th digit incl 5th metacarpal, ulnar hypoplasia, absent 5th toe) Toriello-Carey syndrome (OMIM ... palpebral fissures Hypoplastic tragus & ear lobes Hedera-Toriello-Petty syndrome ( ...
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