U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Brachyolmia type 1, toledo type(BCYM1B)

MedGen UID:
376504
Concept ID:
C1849048
Disease or Syndrome
Synonyms: BCYM1B; PAPS-chondroitin sulfate sulfotransferase deficiency; SED, chondroitin sulfate type; Spondyloepiphyseal dysplasia tarda Toledo type; Toledo type brachyolmia
 
Monarch Initiative: MONDO:0010074
OMIM®: 271630
Orphanet: ORPHA93303

Clinical features

From HPO
Back pain
MedGen UID:
2530
Concept ID:
C0004604
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Increased urinary disaccharide excretion
MedGen UID:
868660
Concept ID:
C4023062
Finding
Increased concentration of disaccharide in the urine.
Broad tibial metaphyses
MedGen UID:
394795
Concept ID:
C2678328
Finding
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Intervertebral space narrowing
MedGen UID:
78101
Concept ID:
C0263870
Finding
Decreased height of the intervertebral disk.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Precocious costochondral ossification
MedGen UID:
341367
Concept ID:
C1849049
Finding
Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.
Squared-off platyspondyly
MedGen UID:
376505
Concept ID:
C1849051
Finding
Abnormal odontoid process morphology
MedGen UID:
351218
Concept ID:
C1864794
Anatomical Abnormality
Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.
Childhood-onset short-trunk short stature
MedGen UID:
460184
Concept ID:
C3148833
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Recent clinical studies

Etiology

Shohat M, Lachman R, Gruber HE, Rimoin DL
Am J Med Genet 1989 Jun;33(2):209-19. doi: 10.1002/ajmg.1320330214. PMID: 2669482

Clinical prediction guides

Shohat M, Lachman R, Gruber HE, Rimoin DL
Am J Med Genet 1989 Jun;33(2):209-19. doi: 10.1002/ajmg.1320330214. PMID: 2669482

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...