Traits

Traits linked to BMPR1B

bone morphogenetic protein receptor type 1B

The Human Phenotype Ontology links 86 traits to BMPR1B, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Absent calf bone	Always
Absent innermost bone of index finger	Always
Absent/small middle index finger bone	Always
Broad foot	Always
Club foot on both sides	Always
Curvature of little finger	Always
Fused ankle bones	Always
Fused wrist bones	Always
Limb undergrowth	Always
Radial deviation of finger	Always
Short finger bones	Always
Short fingers or toes	Always
Short middle bone of the little finger	Always
Short neck of thighbone	Always
Short outermost bone of the index finger	Always
Short outermost bone of the thumb	Always
Short proximal phalanx of finger	Always
Short proximal phalanx of thumb	Always
Short toe	Always
Shortened 1st long bone of hand	Always
Underdeveloped inner large forearm bone	Always
Wide innermost wide portion of shankbone bone	Always
Abnormal morphology of the radius	Very often (80–99%)
Abnormal morphology of ulna	Very often (80–99%)
Abnormality of the shankbone	Very often (80–99%)
Abnormality of the thumb	Very often (80–99%)
Absent middle toe bones	Very often (80–99%)
Absent/small 1st long bone of hand	Very often (80–99%)
Absent/small calf bone	Very often (80–99%)
Absent/small long bones of hand	Very often (80–99%)
Bilateral single transverse palmar creases	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Finger bends toward pinky	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Pseudoepiphysis of the 2nd finger	Very often (80–99%)
Short big toe	Very often (80–99%)
Short foot	Very often (80–99%)
Short index fingers and second toes	Very often (80–99%)
Short middle bone of finger	Very often (80–99%)
Short thumb	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Type C brachydactyly	Very often (80–99%)
Absent/small thumb	Often (30–79%)
Complete duplication of outermost bone of the thumb	Often (30–79%)
Extra little finger	Often (30–79%)
Short calf bone	Often (30–79%)
Short long bone of foot	Often (30–79%)
Short shinbone	Often (30–79%)
Speckled calcifications in the end part of the outermost thumb bone	Often (30–79%)
Club feet	Sometimes (5–29%)
Fused finger bones	Sometimes (5–29%)
Fused outermost bones of hand	Sometimes (5–29%)
Metatarsus valgus	Sometimes (5–29%)
Shortened 2nd long bone of hand	Sometimes (5–29%)
Wide long bones of hand	Sometimes (5–29%)
Absent/small middle bone of pinky finger	Not recorded
Broad big toe	Not recorded
Bunion	Not recorded
Medially deviated second toe	Not recorded
Radial deviation of the 2nd finger	Not recorded
Short finger	Not recorded
Short index finger	Not recorded
Triangular shaped middle bone of index finger	Not recorded
Triangular shaped middle little finger bone	Not recorded
Ulnar deviation of the 2nd finger	Not recorded
Webbed 2nd and 3rd toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormality of the hip bone	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Cone-shaped end part of bone	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating follicle stimulating hormone level	Always
Elevated circulating luteinizing hormone level	Always
Hypergonadotropic hypogonadism	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	Always
Small uterus	Always

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Often (30–79%)
Incoordination	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Always
Short stature	Very often (80–99%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of connective tissue	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Narrow nasal bridge	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to BMPR1B and how often each is seen. Find out more at hpo.jax.org.

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