Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (2 available)
Molecular Genetics Tests
Genes See tests for all associated and related genes
Also known as: BDA2, BMP2A, SSFSC, SSFSC1, BMP2
Summary: bone morphogenetic protein 2
Clinical features
Help- Abnormality of head or neck
- Anterior open-bite malocclusion
Anterior open-bite malocclusion
- MedGen UID: 120566
- Concept ID: C0266060
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Dental crowding
Dental crowding
- MedGen UID: 11850
- Concept ID: C0040433
- 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
- Everted lower lip vermilion
Everted lower lip vermilion
- MedGen UID: 344003
- Concept ID: C1853246
- 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
- Isolated Pierre-Robin syndrome
Isolated Pierre-Robin syndrome
- MedGen UID: 19310
- Concept ID: C0031900
- Finding: Congenital Abnormality
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- 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
- Anterior open-bite malocclusion
- 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
- Sandal gap
Sandal gap
- MedGen UID: 374376
- Concept ID: C1840069
- Finding: Finding
Abnormality of limbs
- Short 5th metacarpal
Short 5th metacarpal
- MedGen UID: 348858
- Concept ID: C1861388
- Finding: Finding
Abnormality of limbs
- Short toe
Short toe
- MedGen UID: 322858
- Concept ID: C1836195
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia
- MedGen UID: 18314
- Concept ID: C0030590
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Perimembranous ventricular septal defect
Perimembranous ventricular septal defect
- MedGen UID: 87490
- Concept ID: C0344925
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Pulmonic stenosis
Pulmonic stenosis
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Transposition of the great arteries
Transposition of the great arteries
- MedGen UID: 21245
- Concept ID: C0040761
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Cardiac arrhythmia
- Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Toenail dysplasia
Toenail dysplasia
- MedGen UID: 478253
- Concept ID: C3276623
- Finding: Finding
Abnormality of the integument
- Synophrys
- Abnormality of the musculoskeletal system
- 11 pairs of ribs
11 pairs of ribs
- MedGen UID: 326950
- Concept ID: C1839731
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Infantile muscular hypotonia
Infantile muscular hypotonia
- MedGen UID: 395993
- Concept ID: C1860834
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- 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
- Prominent sternum
Prominent sternum
- MedGen UID: 337578
- Concept ID: C1846433
- Finding: Finding
Abnormality of the musculoskeletal system
- Spondylolisthesis
Spondylolisthesis
- MedGen UID: 52470
- Concept ID: C0038016
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- 11 pairs of ribs
- 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
- Obstructive sleep apnea syndrome
Obstructive sleep apnea syndrome
- MedGen UID: 101045
- Concept ID: C0520679
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spina bifida occulta
Spina bifida occulta
- MedGen UID: 36380
- Concept ID: C0080174
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability
- Ear malformation
- Conductive hearing impairment
Conductive hearing impairment
- MedGen UID: 9163
- Concept ID: C0018777
- Finding: Disease or Syndrome
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
- Conductive hearing impairment
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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