Phenotype #0000000732

Individual ID 00001550
Associated disease CSS
Birth_Details 41
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight -0.8
Age/Examination 07y (7 years)
Age/Diagnosis -
OFC at birth (SDS) 35
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms +
Feeding_Problems/Start before6mths
Feeding_Problems/Duration ongoing
Eczema +
Phenotype details -
Skin/Vascular -
Hypotonia +
Seizures no
Growth delayed
Vision/Abnormality normal
Hearing/Loss -
Other hearing problems ?
Speech severe
Cognitive/Impairment moderate
Behaviour/Abnormality Obsessive/ rigid
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 anteverted;thick
Face/Philtrum long;wide
Facial/Mouth/Wide +
Cleft -
Ears/Abnormal normal
Ears/Tags -
Hypertrichosis +
Skin/Wrinkling -
Scoliosis no
Pectus_Excavatum -
Elbow/Dislocated -
Patella/Small -
Brachydactyly +
Phalanges/Distal/Absent_5th -
Nails/Small -
Joints/Interphalangeal/Proximal -
Phalanges/Distal/Prominent -
Joint/Laxity -
Intestine/Abnormality -
Heart/Abnormality -
Kidney/Abnormality -
Teeth/Anomalies -
Infections -
Epiphyses/Cone_shaped -
Brain/Corpus_Callosum/Agenesis -
Missing hypoplastic phalanx of fingers or toes -
Bone/Age -
Stenosis_Pyloric -
Gastro-Esophoegal_Reflux -
Hernia -
Eye/Cornea -
Eye/Orbital -
Protein -
Brain/Imaging no
Eye/Movement -
Facial/Lips vermillion thick lower
Owner name Gijs Santen