Phenotype #0000000731

Individual ID 00001549
Associated disease CSS
Birth_Details 38/40
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight -0.5
Age/Examination 04y (4 years)
Age/Diagnosis -
OFC at birth (SDS) ?
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms -
Feeding_Problems/Start -
Feeding_Problems/Duration -
Eczema ?
Phenotype details -
Skin/Vascular -
Hypotonia +
Seizures -
Seizures/Age/Onset -
Seizure/Frequency NA
Seizure/Type ?
Growth normal
Vision/Abnormality abnormal
Vision/Other slight squint
Hearing/Loss -
Other hearing problems ?
Speech moderate
Cognitive/Impairment moderate
Behaviour/Abnormality Tantrums, aggressive outbursts, difficulty socialising
Hair/Scalp sparse
Eyebrows +
Eyelashes eyelashes, long (trichomegaly, HP:0000527)
Lacrimal_Duct ?
MotorSkills delayed gross motor skills (HP:0002194); delayed fine motor skills (HP:0010862)
Ptosis ?
Choanal_Stenosis -
Nose/Bridge -
Nose/Alae normal;thick
Philtrum/Width ?
Face/Philtrum ?
Facial/Mouth/Wide ?
Cleft -
Ears/Abnormal normal
Ears/Tags -
Hypertrichosis +
Skin/Wrinkling -
Scoliosis no
Pectus_Excavatum Pectus carinatum
Elbow/Dislocated -
Patella/Small -
Brachydactyly +
Phalanges/Distal/Absent_5th -
Nails/Small multiple, including 5th
Joints/Interphalangeal/Proximal -
Phalanges/Distal/Prominent ?
Joint/Laxity +
Intestine/Abnormality -
Heart/Abnormality -
Kidney/Abnormality -
Teeth/Anomalies -
Infections +
Epiphyses/Cone_shaped ?
Brain/MRI Not performed
Brain/Corpus_Callosum/Agenesis ?
Missing hypoplastic phalanx of fingers or toes ?
Bone/Age ?
Stenosis_Pyloric -
Gastro-Esophoegal_Reflux -
Hernia -
Eye/Cornea myopia
Eye/Orbital -
Protein -
Eye/Movement strabismus
Facial/Lips vermillion thick lower
Owner name Gijs Santen