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1.

Spondyloperipheral dysplasia

Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability. [from MedlinePlus Genetics]

MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
2.

Short distal phalanx of the 4th finger

Hypoplastic/small distal phalanx of the fourth finger. [from HPO]

MedGen UID:
867141
Concept ID:
C4021499
Anatomical Abnormality

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