Presentation
Jaw & Teeth
- Enamel Anomaly
Abnormal dermatoglyphics - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Beaked nose - Cataract / lens opacification - Ectopic / horseshoe / fused kidneys - Ectropion / entropion / eyelid eversion - Elbow dislocation - Enamel [csbg.cnb.csic.es]
Musculoskeletal
- Carpal Bone Fusion
bones fusion / synostosis - Metacarpal anomalies / Archibald's sign - Oligodactyly / ectrodactyly of fingers - Syndactyly of fingers / interdigital palm - Synostosis Frequent - Absent / small toenails / anonychia of feet - Downslanted palpebral fissures [csbg.cnb.csic.es]
Skin
- Medially Flared Eyebrows
On physical examination, the findings were: downslanting palpebral fissures, eversion of the lower lids, long eyelashes, sparse medially flared eyebrows, depressed nasal root, anteverted nostrils, long philtrum, thin upper lip, persistence of pads, spatulated [ashg.org]
- Sparse to No Eyebrows
On physical examination, the findings were: downslanting palpebral fissures, eversion of the lower lids, long eyelashes, sparse medially flared eyebrows, depressed nasal root, anteverted nostrils, long philtrum, thin upper lip, persistence of pads, spatulated [ashg.org]
- Calcinosis Cutis
cutis (see also CREST… … Wikipedia [enacademic.com]
- Cafe-Au-Lait Spots
au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… … Wikipedia [enacademic.com]
Ears
- Hearing Impairment
Most common symptoms of CENANI-LENZ SYNDACTYLY SYNDROME; CLSS Autosomal recessive inheritance Pica Hearing impairment Scoliosis Hypertelorism More info about CENANI-LENZ SYNDACTYLY SYNDROME; CLSS SOURCES: MONDO ORPHANET GARD DOID UMLS SCTID OMIM MESH [mendelian.co]
Impairment, External Ophthalmoplegia, And Thrombocytopenia OORS 147750 Genetic Test Registry Jackson-Weiss Syndrome Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities JWS 123150 Genetic Test Registry Joubert Syndrome 10 JBTS10 300804 Genetic [ukgtn.nhs.uk]
Face, Head & Neck
- Beak Nose
nose - Cataract / lens opacification - Ectopic / horseshoe / fused kidneys - Ectropion / entropion / eyelid eversion - Elbow dislocation - Enamel anomaly - Flat cheek bones / malar hypoplasia - Hearing loss / hypoacusia / deafness - High vaulted / narrow [csbg.cnb.csic.es]