Feature | Potential clinical implications |
Growth parameters | |
Birth weight | |
>4 kg | Maternal diabetes |
Weight | |
Failure to thrive | Chondrodysplasia punctata (Conradi-Hünermann syndrome), galactosemia, Lowe syndrome, Refsum disease (infantile form), Smith-Lemli-Opitz syndrome, Wolf-Hirschhorn syndrome, Zellweger syndrome |
Obesity | Bardet-Biedl syndrome |
Length/stature | |
Short stature | Cockayne syndrome, Down syndrome, chondrodysplasia punctata, Hallermann-Streiff syndrome, incontinentia pigmenti, Lowe syndrome, Marinesco-Sjögren's disease, Marshall syndrome, nail-patella syndrome, Rothmund-Thomson syndrome, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, Turner syndrome, Werner syndrome |
Head circumference | |
Microcephaly | Cockayne syndrome, Cri du chat syndrome, Hallermann-Streiff syndrome, incontinentia pigmenti, intrauterine infection, Marinesco-Sjögren's disease, Meckel-Gruber syndrome, Norrie disease, oculodentodigital dysplasia, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, trisomy 13, Walker-Warburg syndrome, Wolf-Hirschhorn syndrome |
Macrocephaly | Mannosidosis, Zellweger syndrome |
Skin | |
Sebaceous cysts | Lowe syndrome |
Subcutaneous nodules | Lowe syndrome |
Hyperpigmented whorls | Incontinentia pigmentii |
Telangectasias | Rothmund-Thomson syndrome |
Angiokeratomas | Fabry disease |
Jaundice | Galactosemia, intrauterine infection, maternal diabetes |
Scaly skin | Alport syndrome, ichthyosis, chondrodysplasia punctata, Refsum disease |
Rash | Intrauterine infection |
Decreased/absent sweating | Anhidrotic and hypohidrotic ectodermal dysplasia, Cockayne syndrome, Fabry disease |
Nails | |
Hypoplastic, dysplastic, or absent | Hidrotic ectodermal dysplasia, incontinentia pigmenti, nail-patella syndrome, Rothmund-Thomson syndrome, trisomy 18 |
Head | |
Craniosynostosis | Apert syndrome, Crouzon syndrome |
Micrognathia | Cri du chat syndrome, Hallermann-Streiff syndrome, Marshall syndrome, Meckel-Gruber syndrome, Pierre Robin syndrome, progeria, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, Stickler syndrome, trisomy 18, Wolf-Hirschhorn syndrome, Zellweger syndrome |
Sparse hair or alopecia | Anhidrotic and hypohidrotic ectodermal dysplasia, chondrodysplasia punctata, Hallermann-Streiff syndrome, incontinentia pigmenti, oculodentodigital dysplasia, progeria, Rothmund-Thomson syndrome, Werner syndrome |
Hypertrichosis | Mannosidosis |
Ears | |
Small ears | Down syndrome, Walker-Warburg syndrome |
Low-set ears | Cri du chat syndrome, Hallermann-Streiff syndrome, Meckel-Gruber syndrome, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, trisomy 18 |
Conductive hearing loss | Apert syndrome, Down syndrome, oculodentodigital dysplasia |
Sensorineural deafness | Alport syndrome, Cockayne syndrome, congenital cytomegalovirus, congenital rubella, mannosidosis, Marshall syndrome, Refsum disease, Stickler syndrome |
Oropharynx | |
Cleft palate | Marshall syndrome, Meckel-Gruber syndrome, nail-patella syndrome, oculodentodigital dysplasia, Pierre Robin syndrome, Smith-Lemli-Opitz syndrome, Stickler syndrome, trisomy 13, Walker-Warburg syndrome, Wolf-Hirschhorn syndrome |
Gingival hypertrophy | Mannosidosis |
Abdomen | |
Hepatomegaly | Cockayne syndrome, congenital cytomegalovirus, congenital rubella, congenital syphilis, congenital toxoplasmosis, galactosemia, mannosidosis, Refsum disease, Zellweger syndrome |
Cardiac | |
Cardiac malformations | Apert syndrome, Bardet-Biedl syndrome, congenital rubella, Down syndrome, Meckel-Gruber syndrome, Refsum disease (infantile form), Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, trisomy 13, trisomy 18, Turner syndrome, Wolf-Hirschhorn syndrome |
Conduction disturbance | Myotonic dystrophy |
Musculoskeletal | |
Transverse palmar crease | Down syndrome, trisomy 13, Wolf-Hirschhorn syndrome |
Absent or hypoplastic patella; radial head subluxation | Nail-patella syndrome |
Joint contractures | Chondrodysplasia punctata, Marinesco-Sjögren's disease, Walker-Warburg syndrome |
Broad thumbs | Rubinstein-Taybi syndrome |
Polydactyly | Bardet-Beidl syndrome, Meckel-Gruber syndrome, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, trisomy 13, Wolf-Hirschhorn syndrome |
Syndactyly | Apert syndrome (mitten hand), Meckel-Gruber syndrome, Smith-Lemli-Opitz syndrome (2nd and 3rd toes) |
Talipes equinovarus (club feet) | Chondrodysplasia punctata, nail-patella syndrome, Rothmund-Thomson syndrome, Wolf-Hirschhorn syndrome, Zellweger syndrome |
Rocker bottom feet | Zellweger syndrome |
Neurologic | |
Hypotonia | Cri du chat syndrome, Down syndrome, galactosemia, Lowe syndrome (neonatal), mannosidosis, Marinesco-Sjögren's disease, myotonic dystrophy, Refsum disease, Smith-Lemli-Opitz syndrome (early infancy), Walker-Warburg syndrome, Zellweger syndrome |
Seizures | Cockayne syndrome, congenital cytomegalovirus, congenital herpes simplex virus, congenital toxoplasmosis, hypoparathyroidism, incontinentia pigmenti, Lowe syndrome, Smith-Lemli-Opitz syndrome, Walker-Warburg syndrome, Zellweger syndrome |
Decreased/absent reflexes | Lowe syndrome, Refsum disease (infantile form), Zellweger syndrome |
Increased reflexes | Mannosidosis, oculodentodigital dysplasia |
Mental retardation | Cockayne syndrome, chondrodysplasia punctata, Cri du chat syndrome, Down syndrome, Hallermann-Streiff syndrome, incontinentia pigmenti, Lowe syndrome, Marinesco-Sjögren's disease, oculodentodigital dysplasia, Refsum disease (infantile form), Smith-Lemli-Opitz syndrome, Zellweger syndrome |
Weakness | Myotonic dystrophy, Marinesco-Sjögren's disease |
Genitourinary | |
Cryptorchidsim and/or hypogonadism | Apert syndrome, Bardet-Biedl syndrome, Cockayne syndrome, Hallermann-Streiff syndrome, Lowe syndrome, Meckel-Gruber syndrome, myotonic dystrophy, Refsum disease, Rothmund-Thomson syndrome, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome, trisomy 13, trisomy 18, Wolf-Hirschhorn syndrome |
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