Phenotype #0000000701

Individual ID 00001519
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details brith 39w+5, weight SD -0.2; Pierre Robin sequence,Microphthalmia,Hypertelorism,Bitemporal narrowing,Asymmetric facies,Short 4th/5th metacarpals hand,Dense aspect metaphysis radius, ulna and femur,Narrow auditory canals,Fetal finger pads,Knee pain,Asymmetric facies,High pain tolerance; tilted papils with surrounding hyperpigmentation, myopia -2.5D (HP:0000545); generalized hypotonia; birth feeding problems 2.5y; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); mild intellectual disability; anxiety (HP:0000739); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); strabismus (HP:0000486)
Inheritance Isolated (sporadic)
Age/Examination 08y09m (8 years, 9 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Gijs Santen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema