Autosomal dominant Robinow syndrome 1
- Synonyms
- Acral dysostosis with facial and genital abnormalities; Costovertebral segmentation defect with mesomelia (formerly); Covesdem syndrome (formerly); Fetal face syndrome; Robinow dwarfism; WNT5A-Related Robinow Syndrome, Autosomal Dominant
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:
- Maian Roifman
- Han Brunner
- Jamie Lohr
- view full author information
Available tests
Clinical tests (36 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Bifid tongue
Bifid tongue
- MedGen UID: 82731
- Concept ID: C0266111
- Finding: Congenital Abnormality
Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Dental crowding
Dental crowding
- MedGen UID: 11850
- Concept ID: C0040433
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Downturned corners of mouth
Downturned corners of mouth
- MedGen UID: 356471
- Concept ID: C1866195
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- Finding: Finding
Abnormality of head or neck
- Gingival overgrowth
Gingival overgrowth
- MedGen UID: 87712
- Concept ID: C0376480
- 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
- Long palpebral fissure
Long palpebral fissure
- MedGen UID: 340300
- Concept ID: C1849340
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Macroglossia
Macroglossia
- MedGen UID: 44236
- Concept ID: C0024421
- Finding: Disease or Syndrome
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Narrow palate
Narrow palate
- MedGen UID: 278045
- Concept ID: C1398312
- Finding: Finding
Abnormality of head or neck
- Orofacial cleft
Orofacial cleft
- MedGen UID: 472000
- Concept ID: C3266076
- Finding: Congenital Abnormality
Abnormality of head or neck
- Persistence of primary teeth
Persistence of primary teeth
- MedGen UID: 75597
- Concept ID: C0266050
- Finding: Disease or Syndrome
Abnormality of head or neck
- Short hard palate
Short hard palate
- MedGen UID: 892925
- Concept ID: C4023918
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Short lingual frenulum
Short lingual frenulum
- MedGen UID: 604928
- Concept ID: C0426501
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Triangular mouth
Triangular mouth
- MedGen UID: 336578
- Concept ID: C1849341
- Finding: Finding
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- 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
- Anteverted nares
- Abnormality of limbs
- Bifid distal phalanx of toe
Bifid distal phalanx of toe
- MedGen UID: 867402
- Concept ID: C4021772
- Finding: Anatomical Abnormality
Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad thumb
Broad thumb
- MedGen UID: 140880
- Concept ID: C0426891
- Finding: Finding
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
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- Finding: Congenital Abnormality
Abnormality of limbs
- Duplication of the distal phalanx of hand
Duplication of the distal phalanx of hand
- MedGen UID: 336580
- Concept ID: C1849343
- Finding: Finding
Abnormality of limbs
- Limited elbow extension and supination
Limited elbow extension and supination
- MedGen UID: 870670
- Concept ID: C4025124
- Finding: Finding
Abnormality of limbs
- Mesomelia
Mesomelia
- MedGen UID: 107808
- Concept ID: C0549306
- Finding: Congenital Abnormality
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 middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
- MedGen UID: 322335
- Concept ID: C1834060
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short palm
Short palm
- MedGen UID: 334684
- Concept ID: C1843108
- Finding: Finding
Abnormality of limbs
- Small hand
Small hand
- MedGen UID: 108279
- Concept ID: C0575802
- Finding: Finding
Abnormality of limbs
- Bifid distal phalanx of toe
- Abnormality of the cardiovascular system
- Right ventricular outlet tract obstruction
Right ventricular outlet tract obstruction
- MedGen UID: 11245
- Concept ID: C0035619
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Right ventricular outlet tract obstruction
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Clitoral hypoplasia
Clitoral hypoplasia
- MedGen UID: 336198
- Concept ID: C1844527
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hypoplastic labia majora
Hypoplastic labia majora
- MedGen UID: 107566
- Concept ID: C0566899
- Finding: Finding
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal duplication
Renal duplication
- MedGen UID: 488826
- Concept ID: C0266298
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Clitoral hypoplasia
- Abnormality of the integument
- Long eyelashes
Long eyelashes
- MedGen UID: 342955
- Concept ID: C1853738
- Finding: Finding
Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nevus flammeus
Nevus flammeus
- MedGen UID: 65911
- Concept ID: C0235752
- Finding: Congenital Abnormality
Abnormality of the integument
- Sacral dimple
Sacral dimple
- MedGen UID: 98428
- Concept ID: C0426848
- Finding: Finding
Abnormality of the integument
- Long eyelashes
- Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- 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
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Short long bone
Short long bone
- MedGen UID: 344385
- Concept ID: C1854912
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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
- Global developmental delay
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.