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URL: https://omim.org/clinicalSynopsis/277300


#277300
Table of Contents

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1


INHERITANCE
- Autosomal recessive [SNOMEDCT: 258211005] [UMLS: C0441748 HPO: HP:0000007] [HPO: HP:0000007]
GROWTH
Height
- Dwarfism [SNOMEDCT: 237837007, 237836003, 422065006] [ICD10CM: E34.31] [UMLS: C5979888, C0013336 HPO: HP:0003510] [HPO: HP:0003510]
- Short trunk [UMLS: C0521527]
Other
- Normal length limbs [UMLS: C5194247]
HEAD & NECK
Neck
- Short neck [SNOMEDCT: 95427009] [UMLS: C0521525 HPO: HP:0000470] [HPO: HP:0000470]
RESPIRATORY
- Respiratory infection [SNOMEDCT: 275498002] [UMLS: C0035243 HPO: HP:0011947] [HPO: HP:0011947]
CHEST
Ribs Sternum Clavicles & Scapulae
- Rib anomalies [UMLS: C1842083 HPO: HP:0000772] [HPO: HP:0000772]
- Fused ribs [SNOMEDCT: 66102006] [ICD10CM: Q76.6] [UMLS: C0265695 HPO: HP:0000902] [HPO: HP:0000902]
SKELETAL
Spine
- Hemivertebrae [SNOMEDCT: 68359008] [ICD10CM: Q76.49] [ICD9CM: 756.14] [UMLS: C0265677 HPO: HP:0002937] [HPO: HP:0002937]
- Vertebral fusion [UMLS: C3278509 HPO: HP:0002948] [HPO: HP:0002948]
- Block vertebrae [UMLS: C1844753 HPO: HP:0003305] [HPO: HP:0003305]
- Abnormal odontoid process [UMLS: C1864794 HPO: HP:0003310] [HPO: HP:0003310]
Limbs
- Normal length limbs [UMLS: C5194247]
MISCELLANEOUS
- Infantile death [SNOMEDCT: 240297000] [UMLS: C0549159 HPO: HP:0001522] [HPO: HP:0001522]
MOLECULAR BASIS
- Caused by mutation in the delta like canonical Notch ligand 3 gene (DLL3, 602768.0001)

Creation Date:
John F. Jackson : 6/15/1995
joanna : 08/07/2019
mimadm : 6/15/1995

# 277300

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1


SNOMEDCT: 61367005;   ORPHA: 2311;   DO: 0112365;   MONDO: 0020692;  


INHERITANCE
- Autosomal recessive [SNOMEDCT: 258211005] [UMLS: C0441748 HPO: HP:0000007] [HPO: HP:0000007]
GROWTH
Height
- Dwarfism [SNOMEDCT: 237837007, 237836003, 422065006] [ICD10CM: E34.31] [UMLS: C5979888, C0013336 HPO: HP:0003510] [HPO: HP:0003510]
- Short trunk [UMLS: C0521527]
Other
- Normal length limbs [UMLS: C5194247]
HEAD & NECK
Neck
- Short neck [SNOMEDCT: 95427009] [UMLS: C0521525 HPO: HP:0000470] [HPO: HP:0000470]
RESPIRATORY
- Respiratory infection [SNOMEDCT: 275498002] [UMLS: C0035243 HPO: HP:0011947] [HPO: HP:0011947]
CHEST
Ribs Sternum Clavicles & Scapulae
- Rib anomalies [UMLS: C1842083 HPO: HP:0000772] [HPO: HP:0000772]
- Fused ribs [SNOMEDCT: 66102006] [ICD10CM: Q76.6] [UMLS: C0265695 HPO: HP:0000902] [HPO: HP:0000902]
SKELETAL
Spine
- Hemivertebrae [SNOMEDCT: 68359008] [ICD10CM: Q76.49] [ICD9CM: 756.14] [UMLS: C0265677 HPO: HP:0002937] [HPO: HP:0002937]
- Vertebral fusion [UMLS: C3278509 HPO: HP:0002948] [HPO: HP:0002948]
- Block vertebrae [UMLS: C1844753 HPO: HP:0003305] [HPO: HP:0003305]
- Abnormal odontoid process [UMLS: C1864794 HPO: HP:0003310] [HPO: HP:0003310]
Limbs
- Normal length limbs [UMLS: C5194247]
MISCELLANEOUS
- Infantile death [SNOMEDCT: 240297000] [UMLS: C0549159 HPO: HP:0001522] [HPO: HP:0001522]
MOLECULAR BASIS
- Caused by mutation in the delta like canonical Notch ligand 3 gene (DLL3, 602768.0001)

Creation Date:
John F. Jackson : 6/15/1995

Edit History:
joanna : 08/07/2019
mimadm : 6/15/1995



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
Printed: April 4, 2026