Cranioectodermal dysplasia 1
- Synonyms
- LEVIN SYNDROME I; Levin syndrome 1
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Weizhen Tan
- Angela Lin
- Kim Keppler-Noreuil
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (50 available)
Clinical features
Help- Abnormality of head or neck
- Anodontia
Anodontia
- MedGen UID: 98313
- Concept ID: C0399352
- Finding: Congenital Abnormality
Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Everted lower lip vermilion
Everted lower lip vermilion
- MedGen UID: 344003
- Concept ID: C1853246
- Finding: Finding
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- Finding: Finding
Abnormality of head or neck
- Microdontia
Microdontia
- MedGen UID: 66008
- Concept ID: C0240340
- Finding: Congenital Abnormality
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Widely spaced teeth
Widely spaced teeth
- MedGen UID: 337093
- Concept ID: C1844813
- Finding: Finding
Abnormality of head or neck
- Anodontia
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad distal phalanges of all fingers
Broad distal phalanges of all fingers
- MedGen UID: 869745
- Concept ID: C4024174
- Finding: Anatomical Abnormality
Abnormality of limbs
- Broad toe
Broad toe
- MedGen UID: 351283
- Concept ID: C1865038
- Finding: Finding
Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Fibular hypoplasia
Fibular hypoplasia
- MedGen UID: 316909
- Concept ID: C1832119
- Finding: Finding
Abnormality of limbs
- Radial deviation of finger
Radial deviation of finger
- MedGen UID: 322852
- Concept ID: C1836189
- Finding: Finding
Abnormality of limbs
- Rhizomelia
Rhizomelia
- MedGen UID: 357122
- Concept ID: C1866730
- Finding: Congenital Abnormality
Abnormality of limbs
- Short distal phalanx of finger
Short distal phalanx of finger
- MedGen UID: 326590
- Concept ID: C1839829
- Finding: Finding
Abnormality of limbs
- Short humerus
Short humerus
- MedGen UID: 316907
- Concept ID: C1832117
- Finding: Congenital Abnormality
Abnormality of limbs
- Short toe
Short toe
- MedGen UID: 322858
- Concept ID: C1836195
- Finding: Finding
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Triphalangeal hallux
Triphalangeal hallux
- MedGen UID: 609308
- Concept ID: C0432034
- Finding: Congenital Abnormality
Abnormality of limbs
- Brachydactyly
- Abnormality of metabolism/homeostasis
- Hypocalcemia
Hypocalcemia
- MedGen UID: 5705
- Concept ID: C0020598
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypocalcemia
- Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
- Abnormality of the digestive system
- Hepatic cysts
Hepatic cysts
- MedGen UID: 82761
- Concept ID: C0267834
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic failure
Hepatic failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic fibrosis
Hepatic fibrosis
- MedGen UID: 116093
- Concept ID: C0239946
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Malformation of the hepatic ductal plate
Malformation of the hepatic ductal plate
- MedGen UID: 346605
- Concept ID: C1857519
- Finding: Finding
Abnormality of the digestive system
- Protuberant abdomen
Protuberant abdomen
- MedGen UID: 340750
- Concept ID: C1854928
- Finding: Finding
Abnormality of the digestive system
- Hepatic cysts
- Abnormality of the ear
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Abnormality of the ear
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Abnormality of the ear
- Low-set ears
- Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal dystrophy
Retinal dystrophy
- MedGen UID: 208903
- Concept ID: C0854723
- Finding: Finding
Abnormality of the eye
- Hypotelorism
- Abnormality of the genitourinary system
- Chronic kidney disease
Chronic kidney disease
- MedGen UID: 473458
- Concept ID: C1561643
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal magnesium wasting
Renal magnesium wasting
- MedGen UID: 1811452
- Concept ID: C5574944
- Finding: Finding
Abnormality of the genitourinary system
- Stage 1 chronic kidney disease
Stage 1 chronic kidney disease
- MedGen UID: 378390
- Concept ID: C2316401
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Tubulointerstitial nephritis
Tubulointerstitial nephritis
- MedGen UID: 11952
- Concept ID: C0041349
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Chronic kidney disease
- Abnormality of the integument
- Ectodermal dysplasia
Ectodermal dysplasia
- MedGen UID: 8544
- Concept ID: C0013575
- Finding: Disease or Syndrome
Abnormality of the integument
- Fine hair
Fine hair
- MedGen UID: 98401
- Concept ID: C0423867
- Finding: Finding
Abnormality of the integument
- Short nail
Short nail
- MedGen UID: 140850
- Concept ID: C0423808
- Finding: Finding
Abnormality of the integument
- Slow-growing hair
Slow-growing hair
- MedGen UID: 371309
- Concept ID: C1832348
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Thin nail
Thin nail
- MedGen UID: 98073
- Concept ID: C0423823
- Finding: Finding
Abnormality of the integument
- Ectodermal dysplasia
- Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Flattened epiphysis
Flattened epiphysis
- MedGen UID: 387844
- Concept ID: C1857527
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Isolated scaphocephaly
Isolated scaphocephaly
- MedGen UID: 82712
- Concept ID: C0265534
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Sagittal craniosynostosis
Sagittal craniosynostosis
- MedGen UID: 140921
- Concept ID: C0432123
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Short thorax
Short thorax
- MedGen UID: 140876
- Concept ID: C0426789
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
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