Spondyloepiphyseal dysplasia tarda, Kohn type

MedGen UID:: 338603
•Concept ID:: C1849053
•: Disease or Syndrome

Synonym:	SEDT WITH MENTAL RETARDATION
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0010073
OMIM®:	271620
Orphanet:	ORPHA163665

Definition

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. [from ORDO]

Clinical features

From HPO

Coxa valga

MedGen UID:: 116080
•Concept ID:: C0239137
•: Finding

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Spondyloepiphyseal dysplasia

MedGen UID:: 20916
•Concept ID:: C0038015
•: Finding

A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).

See: Feature record | Search on this feature

Platyspondyly

MedGen UID:: 335010
•Concept ID:: C1844704
•: Finding

A flattened vertebral body shape with reduced distance between the vertebral endplates.

See: Feature record | Search on this feature

Short greater sciatic notch

MedGen UID:: 401058
•Concept ID:: C1866689
•: Finding

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.

See: Feature record | Search on this feature

Anterior beaking of lumbar vertebrae