Patient Overview : 1

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/1
Female 100.0% 1/1
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 100.0% 1/1
< P3 : Short stature 100.0% 1/1
Current Weight abnormalities 100.0% 1/1
< P3 : Decreased body weight 100.0% 1/1
Current Head circumference abnormalities 0% 0/1
Facial abnormalities    
Abnormality of the nose 100.0% 1/1
Depressed nasal ridge 100.0% 1/1
Short nose 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Brachydactyly syndrome 100.0% 1/1
Pes planus 100.0% 1/1
Relative macrocephaly 100.0% 1/1
Short stature 100.0% 1/1
Tapered finger 100.0% 1/1
2-3 toe syndactyly 100.0% 1/1
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 1/1
Deep-set nails 100.0% 1/1
Hypoplastic fingernail 100.0% 1/1
Hypoplastic toenails 100.0% 1/1
Misalignment of teeth 100.0% 1/1
Multiple impacted teeth 100.0% 1/1
Nail dysplasia 100.0% 1/1
Redundant skin 100.0% 1/1
Single transverse palmar crease 100.0% 1/1
Sparse scalp hair 100.0% 1/1
Sparse eyelashes 100.0% 1/1
Sparse eyebrow 100.0% 1/1
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 100.0% 1/1
Growth hormone deficiency 100.0% 1/1
Menstrual irregularities 100.0% 1/1