Nail-patella syndrome
- Synonyms
- Arthro-Onychodysplasia; Fong disease; NPS 1; Onychoosteodysplasia; Osteo-Onychodysplasia; Turner-Kieser syndrome
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
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:
- Elizabeth Sweeney
- Julie E Hoover-Fong
- Iain McIntosh
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft upper lip
Cleft upper lip
- MedGen UID: 40327
- Concept ID: C0008924
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Absent distal interphalangeal creases
Absent distal interphalangeal creases
- MedGen UID: 350011
- Concept ID: C1861349
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Disproportionate prominence of the femoral medial condyle
Disproportionate prominence of the femoral medial condyle
- MedGen UID: 320339
- Concept ID: C1834392
- Finding: Finding
Abnormality of limbs
- Elongated radius
Elongated radius
- MedGen UID: 870599
- Concept ID: C4025048
- Finding: Anatomical Abnormality
Abnormality of limbs
- Hypoplastic radial head
Hypoplastic radial head
- MedGen UID: 867331
- Concept ID: C4021695
- Finding: Anatomical Abnormality
Abnormality of limbs
- Limited elbow extension
Limited elbow extension
- MedGen UID: 401158
- Concept ID: C1867103
- Finding: Finding
Abnormality of limbs
- Patellar aplasia
Patellar aplasia
- MedGen UID: 401474
- Concept ID: C1868578
- Finding: Congenital Abnormality
Abnormality of limbs
- Patellar hypoplasia
Patellar hypoplasia
- MedGen UID: 327021
- Concept ID: C1840068
- Finding: Finding
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Absent distal interphalangeal creases
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Keratoconus
Keratoconus
- MedGen UID: 44015
- Concept ID: C0022578
- Finding: Disease or Syndrome
Abnormality of the eye
- Lester sign
Lester sign
- MedGen UID: 869781
- Concept ID: C4024210
- Finding: Finding
Abnormality of the eye
- Microcornea
Microcornea
- MedGen UID: 78610
- Concept ID: C0266544
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphakia
Microphakia
- MedGen UID: 78609
- Concept ID: C0266541
- Finding: Congenital Abnormality
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Hematuria
Hematuria
- MedGen UID: 5488
- Concept ID: C0018965
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrotic syndrome
Nephrotic syndrome
- MedGen UID: 10308
- Concept ID: C0027726
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hematuria
- Abnormality of the immune system
- Glomerulonephritis
Glomerulonephritis
- MedGen UID: 6616
- Concept ID: C0017658
- Finding: Disease or Syndrome
Abnormality of the immune system
- Glomerulonephritis
- Abnormality of the integument
- Anonychia
Anonychia
- MedGen UID: 120563
- Concept ID: C0265998
- Finding: Congenital Abnormality
Abnormality of the integument
- Antecubital pterygium syndrome
Antecubital pterygium syndrome
- MedGen UID: 401231
- Concept ID: C1867439
- Finding: Disease or Syndrome
Abnormality of the integument
- Concave nail
Concave nail
- MedGen UID: 66369
- Concept ID: C0221261
- Finding: Finding
Abnormality of the integument
- Ridged nail
Ridged nail
- MedGen UID: 140853
- Concept ID: C0423820
- Finding: Finding
Abnormality of the integument
- Anonychia
- Abnormality of the musculoskeletal system
- Absence of pectoralis minor muscle
Absence of pectoralis minor muscle
- MedGen UID: 401383
- Concept ID: C1868158
- Finding: Finding
Abnormality of the musculoskeletal system
- Biceps aplasia
Biceps aplasia
- MedGen UID: 812094
- Concept ID: C3805764
- Finding: Finding
Abnormality of the musculoskeletal system
- Glenoid fossa hypoplasia
Glenoid fossa hypoplasia
- MedGen UID: 331731
- Concept ID: C1834384
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplasia of first ribs
Hypoplasia of first ribs
- MedGen UID: 331732
- Concept ID: C1834386
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Iliac horns
Iliac horns
- MedGen UID: 120492
- Concept ID: C0263925
- Finding: Finding
Abnormality of the musculoskeletal system
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Patellar dislocation
Patellar dislocation
- MedGen UID: 253896
- Concept ID: C1135812
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Quadriceps aplasia
Quadriceps aplasia
- MedGen UID: 812095
- Concept ID: C3805765
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thickening of the lateral border of the scapula
Thickening of the lateral border of the scapula
- MedGen UID: 322404
- Concept ID: C1834383
- Finding: Finding
Abnormality of the musculoskeletal system
- Triceps aplasia
Triceps aplasia
- MedGen UID: 816814
- Concept ID: C3810484
- Finding: Finding
Abnormality of the musculoskeletal system
- Absence of pectoralis minor muscle
- Abnormality of the nervous system
- Spina bifida
Spina bifida
- MedGen UID: 38283
- Concept ID: C0080178
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Spina bifida
- Constitutional symptom
- Back pain
Back pain
- MedGen UID: 2530
- Concept ID: C0004604
- Finding: Sign or Symptom
Constitutional symptom
- Back pain
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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