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Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski

MedGen UID:
337989
Concept ID:
C1850185
Disease or Syndrome
Synonym: Danks Mayne Kozlowski precocious osteodysplasty
 
Monarch Initiative: MONDO:0009802
OMIM®: 259270

Clinical features

From HPO
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Abnormal pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Abnormal long bone morphology
MedGen UID:
866811
Concept ID:
C4021165
Anatomical Abnormality
An abnormality of size or shape of the long bones.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

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