Table 2 Comparison of the case and three probable diagnoses
Syndromes | Â | Â | Clinical Manifestations | Â | |
|---|---|---|---|---|---|
Neurology | Orofacial | Musculoskeletal system | Skin | organ involvement | |
Hypotonia Widened CSF spaces (MRI) Neonatal feeding problems Microcephaly Delayed myelination Prominent extra-axial space Seizures Intellectual disability Macrocephaly Impaired speech (Delay) and language Hearing Loss Cerebral visual impairment | Widely spaced eyes Frontal bossing Full Cheeks Peri-orbital fullness Epicanthal folds Narrow palpebral fissures Deep-set eyes More prominent supra-orbital ridge Mid-face hypoplasia Low-set ears (posteriorly rotated or simple with thick helices) Broad nasal base Prominent nose Bifid nasal tip Broad nasal tip Pointy chin Sparse eyebrows Hypermetropia Strabismus Astigmatism Myopia Absent teeth Thin upper lip | Joint laxity (generalized and/or local) High forehead Broad forehead Leg deformity Prominent forehead |  | Males’ Genital abnormalities Patent ductus arteriosus Ventricular septal defect Atrial septal defect Hernia (inguinal, umbilical, hiatal) | |
Hemi-hyperplasia Seizures Learning disability Facial palsy | Atypical retinitis pigmentosa Thick eyebrows hypertelorism Large fleshy nose Bulbous soft nose Thick floppy ears No eruption of primary teeth Hearing loss Bilateral developmental cataract posteriorly rotated ears Pit on ear helix Wide nasal bridge Mildly hypoplastic nostrils Malformed external ear lobes Massive gingival overgrowth Short philtrum Thin upper lip Gingival fibromatosis Macroglossia Supernumerary teeth Wide fissures of tounge Deep fissures of tounge Unable to close mouth Anterior end to-end bite Symmetric soft tissue swelling of the palate | Polydactyly vertebral defects Hypoplasia / aplastic of distal phalanges Hyperextensibility of joints Aplastic/hypoplastic nails Hypoplasia of the distal phalanges Joint hypermobility Short stubby fingers Absence of nails Myoclonus | Hyperpigmentation Mild hirsutism | Hepatosplenomegaly | |
Progressive ataxia Spasticity Neurodevelopmental regression Cerebellar atrophy | Gingival hypertrophy Labial Hypertrophy Buccal hypertrophy Inability to open mouth | Synovial thickness in joint Hypertonia Joint contractures Knee pain Limited range of motion in extremities and weakness Short limbs and neck Torticollis Osteoporosis Stunted growth Osteolytic bone lesions | Papulonodular skin lesions Papuloerythematous rash Large subcutaneous tumors Hyperpigmentation Generalized stiff skin Edematous skin | Protein-losing enteropathy Diarrhea Rectal prolapse lymphangiectasia Recurrent infections Thyroid dysfunction | |
Our case | No | Multiple rashes (around the nose) Popular firm lesions resembling pearl-shape, keratolytic psoriasis (ear helix) Wide nasal ridge Lower lip protrusion Alveolar ridge swelling Open mouth Embedded erupted teeth under the gingiva Plaque–like lesions with a non-smooth surface and erythematous base (mainly on the posterior site | Three main palmar lines (absence of other palmar lines) Lumber deformity Halluces Hypotonic Myopathy Joint stiffness Dysarthria | Multiple popular (on the neck, back, and lumber) Populonodular (body skin) | Diarrhea but no specific disease |