Patient Overview : 47

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 68.1% 32/47
Female 31.9% 15/47
Neurology    
Neurological abnormalities 95.7% 45/47
Global developmental delay 93.6% 44/47
Generalized hypotonia 48.9% 23/47
Seizures 8.5% 4/47
Generalized tonic-clonic seizures 6.4% 3/47
Absent speech 4.3% 2/47
Developmental regression 4.3% 2/47
Gait disturbance 4.3% 2/47
Infantile muscular hypotonia 4.3% 2/47
Intellectual disability, borderline 4.3% 2/47
Severe muscular hypotonia 4.3% 2/47
Speech apraxia 4.3% 2/47
Abnormal emotion/affect behavior 2.1% 1/47
Absence seizures 2.1% 1/47
Arachnoid cyst 2.1% 1/47
Atonic seizures 2.1% 1/47
Facial hypotonia 2.1% 1/47
Focal seizures 2.1% 1/47
Generalized myoclonic seizures 2.1% 1/47
Impaired pain sensation 2.1% 1/47
Intellectual disability, profound 2.1% 1/47
Myoclonic atonic seizures 2.1% 1/47
Photomyoclonic seizures 2.1% 1/47
Poor hand-eye coordination 2.1% 1/47
Scanning speech 2.1% 1/47
Torticollis 2.1% 1/47
Behavioral problems 80.4% 37/46
Sleep disturbance 28.3% 13/46
Autism 21.7% 10/46
Anxiety 19.6% 9/46
Impaired social interactions 19.6% 9/46
Abnormal emotion/affect behavior 13.0% 6/46
Attention deficit hyperactivity disorder 10.9% 5/46
Autistic behavior 10.9% 5/46
Hyperactivity 10.9% 5/46
Short attention span 10.9% 5/46
Aggressive behavior 8.7% 4/46
Polyphagia 6.5% 3/46
Personality disorder 4.3% 2/46
Poor eye contact 4.3% 2/46
Self-injurious behavior 4.3% 2/46
Stereotypic behavior 4.3% 2/46
Abnormal fear/anxiety-related behavior 2.2% 1/46
Global developmental delay 2.2% 1/46
Head-banging 2.2% 1/46
Inappropriate behavior 2.2% 1/46
Motor tics 2.2% 1/46
Oppositional defiant disorder 2.2% 1/46
Recurrent hand flapping 2.2% 1/46
Skin-picking 2.2% 1/46
Sleep-wake cycle disturbance 2.2% 1/46
Stereotypical hand wringing 2.2% 1/46
Brain abnormality 37.8% 14/37
Choroid plexus cyst 5.4% 2/37
Dilation of lateral ventricles 5.4% 2/37
Syringomyelia 5.4% 2/37
Ventriculomegaly 5.4% 2/37
Abnormality of the corpus callosum 2.7% 1/37
Anterior hypopituitarism 2.7% 1/37
Aplasia/Hypoplasia of the brainstem 2.7% 1/37
Arnold-Chiari malformation 2.7% 1/37
Asymmetric ventricles 2.7% 1/37
Cerebral white matter atrophy 2.7% 1/37
Cortical dysplasia 2.7% 1/37
Enlarged cerebellum 2.7% 1/37
Hydrocephalus 2.7% 1/37
Limbic malformations 2.7% 1/37
Morphological abnormality of the central nervous system 2.7% 1/37
Periventricular cysts 2.7% 1/37
Facial abnormalities    
Abnormality of the ear 40.9% 18/44
Macrotia 18.2% 8/44
Low-set ears 11.4% 5/44
Protruding ear 6.8% 3/44
Uplifted earlobe 4.5% 2/44
Abnormality of the pinna 2.3% 1/44
Anterior creases of earlobe 2.3% 1/44
Anteverted ears 2.3% 1/44
Attached earlobe 2.3% 1/44
Cupped ear 2.3% 1/44
Horizontal crus of helix 2.3% 1/44
Low-set, posteriorly rotated ears 2.3% 1/44
Microtia 2.3% 1/44
Posteriorly rotated ears 2.3% 1/44
Prominent tragus 2.3% 1/44
Abnormality of the eye 82.2% 37/45
Long eyelashes 24.4% 11/45
Long palpebral fissure 20.0% 9/45
Epicanthus 17.8% 8/45
Highly arched eyebrow 13.3% 6/45
Thick eyebrow 13.3% 6/45
Downslanted palpebral fissures 11.1% 5/45
Hypertelorism 11.1% 5/45
Upslanted palpebral fissure 11.1% 5/45
Deeply set eye 8.9% 4/45
Hypotelorism 6.7% 3/45
Small palpebral fissure 6.7% 3/45
Abnormality of the eyelid 4.4% 2/45
Broad eyebrow 4.4% 2/45
Laterally curved eyebrow 4.4% 2/45
Sparse eyebrow 4.4% 2/45
Abnormal eye morphology 2.2% 1/45
Bilateral ptosis 2.2% 1/45
Blepharochalasis 2.2% 1/45
Blue irides 2.2% 1/45
Epicanthus inversus 2.2% 1/45
Horizontal eyebrow 2.2% 1/45
Large eyes 2.2% 1/45
Medial flaring of the eyebrow 2.2% 1/45
Nasolacrimal duct obstruction 2.2% 1/45
Periorbital fullness 2.2% 1/45
Prominent eyelashes 2.2% 1/45
Proptosis 2.2% 1/45
Short palpebral fissure 2.2% 1/45
Synophrys 2.2% 1/45
Unilateral ptosis 2.2% 1/45
Abnormality of the nose 42.2% 19/45
Wide nasal bridge 15.6% 7/45
Bulbous nose 8.9% 4/45
Underdeveloped nasal alae 8.9% 4/45
Anteverted nares 6.7% 3/45
Depressed nasal bridge 4.4% 2/45
Prominent nasal bridge 4.4% 2/45
Abnormality of the nasal dorsum 2.2% 1/45
Broad nasal tip 2.2% 1/45
Depressed nasal ridge 2.2% 1/45
Flared nostrils 2.2% 1/45
Large beaked nose 2.2% 1/45
Long nose 2.2% 1/45
Low hanging columella 2.2% 1/45
Prominent nose 2.2% 1/45
Short nose 2.2% 1/45
Wide nose 2.2% 1/45
Abnormality of the mouth 68.2% 30/44
Thin upper lip vermilion 36.4% 16/44
Exaggerated cupid's bow 22.7% 10/44
Smooth philtrum 18.2% 8/44
Broad philtrum 9.1% 4/44
Thick lower lip vermilion 9.1% 4/44
Everted lower lip vermilion 6.8% 3/44
Narrow mouth 6.8% 3/44
Short philtrum 6.8% 3/44
Tented upper lip vermilion 6.8% 3/44
Thick upper lip vermilion 6.8% 3/44
Bifid uvula 4.5% 2/44
Incisor macrodontia 4.5% 2/44
Long philtrum 4.5% 2/44
Microretrognathia 4.5% 2/44
Wide mouth 4.5% 2/44
Alveolar ridge cleft 2.3% 1/44
Ankyloglossia 2.3% 1/44
Bilateral cleft lip 2.3% 1/44
Cleft palate 2.3% 1/44
Dental malocclusion 2.3% 1/44
Downturned corners of mouth 2.3% 1/44
High palate 2.3% 1/44
Micrognathia 2.3% 1/44
Misalignment of incisors 2.3% 1/44
Narrow palate 2.3% 1/44
Short uvula 2.3% 1/44
Submucous cleft soft palate 2.3% 1/44
Supernumerary maxillary incisor 2.3% 1/44
Visual and hearing impairments    
Abnormal hearing 7.0% 3/43
Bilateral sensorineural hearing impairment 2.3% 1/43
Low-frequency hearing loss 2.3% 1/43
Progressive conductive hearing impairment 2.3% 1/43
Abnormal vision 48.8% 21/43
Strabismus 30.2% 13/43
Hypermetropia 9.3% 4/43
Alternating esotropia 4.7% 2/43
Abnormal conjugate eye movement 2.3% 1/43
Amblyopia 2.3% 1/43
Cortical visual impairment 2.3% 1/43
Deeply set eye 2.3% 1/43
Duane anomaly 2.3% 1/43
Nystagmus 2.3% 1/43
Optic nerve hypoplasia 2.3% 1/43
Severe Myopia 2.3% 1/43
Heart    
Abnormality of the heart 9.3% 4/43
Aortic aneurysm 2.3% 1/43
Atria septal defect 2.3% 1/43
Cardiomyopathy 2.3% 1/43
Left ventricular hypertrophy 2.3% 1/43
Secundum atrial septal defect 2.3% 1/43
Gastrointestinal    
Gastrointestinal abnormalities 47.7% 21/44
Constipation 20.5% 9/44
Feeding difficulties 18.2% 8/44
Gastroesophageal reflux 13.6% 6/44
Vomiting 6.8% 3/44
Episodic vomiting 4.5% 2/44
Nasogastric tube feeding in infancy 4.5% 2/44
Esophagitis 2.3% 1/44
Feeding difficulties in infancy 2.3% 1/44
Gastrostomy tube feeding in infancy 2.3% 1/44
Polyphagia 2.3% 1/44
Urogenital    
Abnormality of the urogenital system 15.9% 7/44
Cryptorchidism 4.5% 2/44
Hydronephrosis 4.5% 2/44
Coronal hypospadias 2.3% 1/44
Dilatation of the renal pelvis 2.3% 1/44
Enuresis 2.3% 1/44
Inguinal hernia 2.3% 1/44
Macroorchidism 2.3% 1/44
Polyhydramnios 2.3% 1/44
Unilateral cryptorchidism 2.3% 1/44
Urinary retention 2.3% 1/44
Skeleton    
Skeletal abnormalities 69.8% 30/43
Brachydactyly syndrome 14.0% 6/43
Tapered finger 14.0% 6/43
Clinodactyly of the 5th finger 11.6% 5/43
Plagiocephaly 11.6% 5/43
Sandal gap 11.6% 5/43
Brachycephaly 9.3% 4/43
Increased laxity of fingers 9.3% 4/43
Joint laxity 9.3% 4/43
Pes planus 9.3% 4/43
Broad foot 7.0% 3/43
Hyperextensibility at elbow 7.0% 3/43
Short palm 7.0% 3/43
Clinodactyly 4.7% 2/43
Excessive femoral anteversion 4.7% 2/43
Genu valgum 4.7% 2/43
Joint hypermobility 4.7% 2/43
Osteopenia 4.7% 2/43
Pectus excavatum of inferior sternum 4.7% 2/43
Reduced bone mineral density 4.7% 2/43
Short foot 4.7% 2/43
Small hand 4.7% 2/43
Tibial torsion 4.7% 2/43
Abnormality of calvarial morphology 2.3% 1/43
Aplasia/Hypoplasia of the 3rd toe 2.3% 1/43
Arachnodactyly 2.3% 1/43
Broad distal phalanges of all fingers 2.3% 1/43
Clinodactyly of the 5th toe 2.3% 1/43
Cone-shaped epiphyses of the phalanges of the hand 2.3% 1/43
Coxa vara 2.3% 1/43
Craniosynostosis 2.3% 1/43
Cubitus valgus 2.3% 1/43
Enlarged epiphyses of the hallux 2.3% 1/43
Flat occiput 2.3% 1/43
Hypoplastic ilia 2.3% 1/43
Joint contracture of the 5th finger 2.3% 1/43
Metatarsus adductus 2.3% 1/43
Metopic synostosis 2.3% 1/43
Micrognathia 2.3% 1/43
Narrow chest 2.3% 1/43
Patellar subluxation 2.3% 1/43
Polysyndactyly of hallux 2.3% 1/43
Positional foot deformity 2.3% 1/43
Postaxial polysyndactyly of foot 2.3% 1/43
Recurrent fractures 2.3% 1/43
Retrognathia 2.3% 1/43
Sagittal craniosynostosis 2.3% 1/43
Sclerotic radial epiphyses 2.3% 1/43
Scoliosis 2.3% 1/43
Short metatarsal 2.3% 1/43
Skull asymmetry 2.3% 1/43
Slender long bone 2.3% 1/43
Small epiphyses of the distal phalanges of the hand 2.3% 1/43
Structural foot deformity 2.3% 1/43
Thoracolumbar scoliosis 2.3% 1/43
Trigonocephaly 2.3% 1/43
2-3 toe syndactyly 2.3% 1/43
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 52.3% 23/44
Prominent fingertip pads 13.6% 6/44
Eczema 9.1% 4/44
Single transverse palmar crease 6.8% 3/44
Deep palmar crease 4.5% 2/44
Hyperconvex nail 4.5% 2/44
Multiple cafe-au-lait spots 4.5% 2/44
Soft skin 4.5% 2/44
Sparse hair 4.5% 2/44
Abnormality of the palmar creases 2.3% 1/44
Axillary freckling 2.3% 1/44
Cutis laxa 2.3% 1/44
Deep plantar creases 2.3% 1/44
Dry skin 2.3% 1/44
Fragile skin 2.3% 1/44
Generalized hypertrichosis 2.3% 1/44
Hemangioma 2.3% 1/44
Hirsutism 2.3% 1/44
Hyperhidrosis 2.3% 1/44
Hypopigmentation of the skin 2.3% 1/44
Ingrown nail 2.3% 1/44
Inguinal freckling 2.3% 1/44
Localized hirsutism 2.3% 1/44
Periauricular skin pits 2.3% 1/44
Skin pit 2.3% 1/44
Small nail 2.3% 1/44
Striae distensae 2.3% 1/44
Thin nail 2.3% 1/44
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 2.3% 1/44
Diabetes mellitus 2.3% 1/44
Abnormality of the immune system 25.0% 11/44
Recurrent otitis media 11.4% 5/44
Recurrent respiratory infections 6.8% 3/44
Recurrent upper respiratory tract infections 4.5% 2/44
Recurrent sinusitis 2.3% 1/44