Growth delay, and Hip dislocation

HYALURONIDASE DEFICIENCY Is also known as mucopolysaccharidosis type ix|mpsix|mucopolysaccharidosis type 9|mps9

• Short stature
• Abnormality of the acetabulum

SOURCES: ORPHANET MENDELIAN

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly
• Ataxia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

LEGG-CALVÉ-PERTHES DISEASE Is also known as legg-perthes disease|osteochondrosis of the capital femoral epiphysis|perthes disease|aseptic necrosis of the capital femoral epiphysis|lcp|osteochondritis of the capital femoral epiphysis

• Short stature
• Pain
• Skeletal muscle atrophy
• Abnormality of the dentition
• Depressivity

SOURCES: ORPHANET MESH OMIM MENDELIAN

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

• Scoliosis
• Cognitive impairment
• Brachydactyly
• Joint stiffness
• Neurological speech impairment

SOURCES: ORPHANET MENDELIAN

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

• Short stature
• Scoliosis
• Pain
• Abnormality of the skeletal system
• Short neck

SOURCES: MESH OMIM ORPHANET MENDELIAN

• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN

• Short stature
• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Muscular hypotonia

SOURCES: OMIM MENDELIAN

The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH Is also known as acromesomelic dwarfism

• Short stature
• Abnormality of the skeletal system
• Severe short stature
• Scarring
• Corneal opacity

SOURCES: OMIM MENDELIAN

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

• Short stature
• Micrognathia
• Abnormal facial shape
• Ptosis
• Feeding difficulties

SOURCES: OMIM MESH ORPHANET MENDELIAN

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

• Global developmental delay
• Short stature
• Generalized hypotonia
• Cleft palate
• Talipes equinovarus

SOURCES: OMIM MENDELIAN