Version May 2024
| 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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