| Organ system | Phenotype/Feature | Description | Frequency (if known) | HPO term | Reference/PMID |
|---|---|---|---|---|---|
| Craniofacial | Brachycephaly / turribrachycephaly | Shortened anteroposterior skull shape; in some reports described as turri-brachycephaly with small skull circumference | Reported in multiple families; exact percentage not available | HP:0000248 Brachycephaly | Castori 2010, Am J Med Genet A 152A:2810-2815 (pqac-00000009, pqac-00000010, pqac-00000011) |
| Craniofacial | Facial asymmetry | Persistent asymmetry of facial contour, sometimes with head tilting | Reported in multiple patients | HP:0000324 Facial asymmetry | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000011, pqac-00000012) |
| Craniofacial | Hypertelorism / telecanthus | Markedly increased interorbital distance; a core recognizable feature | Present in essentially all reported patients described in available case series | HP:0000316 Hypertelorism | Castori 2010; Li 2021 (pqac-00000009, pqac-00000010, pqac-00000011, pqac-00000003) |
| Craniofacial | Proptosis | Prominent globes/orbital protrusion | Reported in several patients | HP:0000520 Proptosis | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000012) |
| Craniofacial | Blepharochalasis | Redundant or lax eyelid tissue | Reported in several patients | HP:0000613 Blepharochalasis | Castori 2010; Castori 2018 (pqac-00000010, pqac-00000012) |
| Craniofacial | Midface hypoplasia | Underdeveloped midface/maxillary region contributing to characteristic profile | Common in reported cases | HP:0000340 Midface retrusion | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000011, pqac-00000012) |
| Craniofacial | Broad nose with concave ridge / bulbous or bifid tip | Broad nasal bridge and tip, sometimes with concave nasal ridge or bifid tip | Common in reported cases | HP:0000445 Broad nose; HP:0011120 Concave nasal ridge; HP:0000455 Broad nasal tip | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000011, pqac-00000012) |
| Craniofacial | Prognathism / prominent mandible | Forward projection of mandible with characteristic lower-face prominence | Reported in multiple patients | HP:0000303 Prognathism | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000011, pqac-00000012) |
| Craniofacial | High forehead / bitemporal narrowing | Tall forehead and narrowing of temporal regions | Reported in some patients | HP:0000348 High forehead | Castori 2018 (pqac-00000012) |
| Craniofacial | Strabismus / exotropia | Divergent strabismus/exotropia reported in some individuals | Variable | HP:0000486 Strabismus; HP:0000567 Exotropia | Castori 2010 (pqac-00000010, pqac-00000011) |
| Craniofacial / Oropharyngeal | Bifid uvula | Midline split of uvula | Reported in at least one patient/family | HP:0000193 Bifid uvula | Castori 2010 (pqac-00000010) |
| Craniofacial / Perioral | Short philtrum and thin upper vermilion | Mild perioral dysmorphism contributing to facial gestalt | Variable | HP:0000322 Short philtrum; HP:0000219 Thin upper lip vermilion | Castori 2010 (pqac-00000010) |
| Dental | Radicular dentin dysplasia | Severe root malformation with shortened roots and obliterated pulp chambers; hallmark dental feature | Core feature in reported patients | HP:0006312 Dentin dysplasia | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000011, pqac-00000012) |
| Dental | Dentigerous / apical cysts | Recurrent cysts associated with teeth or apices | Variable; present in some but not all reported patients | HP:0011072 Dentigerous cyst | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000012) |
| Dental | Premature tooth loss / early exfoliation | Progressive early loss of teeth, often severe enough to impair chewing | Common and clinically significant | HP:0006480 Premature loss of teeth | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000012, pqac-00000016) |
| Dental | Unerupted or malformed teeth / dysodontiasis | Abnormal tooth eruption and morphology | Variable | HP:0000670 Delayed eruption of teeth; HP:0000684 Abnormality of tooth morphology | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000012) |
| Dental / Jaw | Alveolar bone resorption | Marked alveolar bone loss accompanying dental pathology | Reported in multiple patients | HP:0100259 Abnormal alveolar ridge morphology | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000011, pqac-00000012) |
| Functional impact | Difficulty chewing solid foods | Severe dental disease can prevent normal mastication and compromise oral intake | Reported in affected siblings followed long term | HP:0012537 Dysphagia for solids (closest related term) | Castori 2018 (pqac-00000002, pqac-00000016) |
| Skeletal | Cervical vertebral fusion (e.g., C2-C3) | Congenital vertebral synostosis, especially in cervical spine | Recurrent feature | HP:0002949 Vertebral fusion | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000011, pqac-00000012) |
| Skeletal | Lumbar vertebral fusion / posterior arch fusion | Fusion involving lumbar vertebrae or posterior arches | Variable | HP:0002949 Vertebral fusion | Castori 2010; Castori 2018 (pqac-00000010, pqac-00000012) |
| Skeletal | Scoliosis | Thoracolumbar spinal curvature abnormality | Variable | HP:0002650 Scoliosis | Castori 2010 (pqac-00000009, pqac-00000010) |
| Skeletal | Thick calvaria / cranial bone abnormality | Increased calvarial thickness reported radiographically | Reported in some cases | HP:0000244 Calvarial thickening | Castori 2010 (pqac-00000011) |
| Skeletal / Mandible | Thinning of mandible | Radiographic mandibular thinning | Reported in at least one family | HP:0000278 Retrognathia/mandibular anomaly (closest broad term) | Castori 2010 (pqac-00000009) |
| Genital | Hypospadias | Urethral opening on ventral penis; recurrent male genital anomaly | Present in affected males reported to date | HP:0000047 Hypospadias | Castori 2010; Castori 2018; Li 2021 (pqac-00000004, pqac-00000010, pqac-00000012, pqac-00000003) |
| Genital | Small penis / hypogenitalism | Underdevelopment of external genitalia | Variable among male cases | HP:0000054 Micropenis | Castori 2010 (pqac-00000009, pqac-00000011) |
| Genitourinary | Ureteral stenosis | Structural urinary tract anomaly reported in one case | Rare/isolated report | HP:0012839 Ureter stenosis | Castori 2010 (pqac-00000010) |
| Neurological / Developmental | Intellectual disability / developmental delay | Typically mild-to-moderate cognitive impairment with delayed psychomotor development; considered a key distinguishing feature from dominant CDH11-related Teebi syndrome | Reported in all EWS patients summarized by Li 2021 | HP:0001249 Intellectual disability; HP:0001263 Global developmental delay | Castori 2010; Castori 2018; Li 2021 (pqac-00000004, pqac-00000005, pqac-00000012, pqac-00000003) |
| Neurological | Microcephaly | Small head circumference reported in some affected individuals | Variable | HP:0000252 Microcephaly | Castori 2018 (pqac-00000012) |
| Neurological | Seizures | Seizure disorder reported in at least one patient | Rare/variable | HP:0001250 Seizure | Castori 2010 (pqac-00000010) |
| Auditory | Mixed hearing loss / progressive bilateral hearing loss | Sensorineural-conductive mixed loss, in some cases progressive and bilateral | Variable | HP:0000408 Hearing impairment; HP:0004789 Mixed hearing impairment | Castori 2010; Castori 2018 (pqac-00000009, pqac-00000010, pqac-00000012) |
| Dermatological | Pachydermia / thick furrowed skin | Thickened furrowed facial skin, especially glabellar region | Reported in some patients | HP:0000974 Hyperkeratosis / HP:0007430 Thickened skin (closest broad term) | Castori 2018; Castori 2010 (pqac-00000012, pqac-00000010) |
| Dermatological | Glabellar skin wrinkling/furrows | Wrinkling or furrows over glabella contributing to facial appearance | Variable but recurrent | HP:0000997 Abnormality of skin texture | Castori 2010 (pqac-00000009, pqac-00000010) |
| Dermatological | Progressive alopecia | Progressive scalp hair loss reported in long-term follow-up of siblings | Reported in some patients | HP:0008070 Alopecia | Castori 2018 (pqac-00000012) |
| Functional / Social | Dependence in adult life | Reported lack of occupational activity and reliance on parental support in adulthood | Observed in 2 adult siblings with long-term follow-up | HP:0033676 Impaired activities of daily living (closest related term) | Castori 2018 (pqac-00000002, pqac-00000012, pqac-00000016) |


*Table: This table summarizes the reported clinical phenotype spectrum of Elsahy-Waters syndrome across major organ systems, with suggested HPO mappings and supporting citations from the gathered evidence. It is useful for disease knowledge base curation, phenotype annotation, and differential diagnosis.*