Growth delay, and Hip dislocation

Diseases related with Growth delay and Hip dislocation

In the following list you will find some of the most common rare diseases related to Growth delay and Hip dislocation that can help you solving undiagnosed cases.

Top matches:

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

Related symptoms:

  • Short stature
  • Abnormality of the acetabulum


SOURCES: ORPHANET MENDELIAN

More info about HYALURONIDASE DEFICIENCY

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.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGG-CALVÉ-PERTHES DISEASE

Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

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.

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Top 5 symptoms//phenotypes associated to Growth delay and Hip dislocation

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Congenital hip dislocation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Hip dislocation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Kyphoscoliosis Global developmental delay

Rare Symptoms - Less than 30% cases

Acromesomelia Cuboidal metacarpal Joint dislocation Severe short-limb dwarfism Short thumb Abnormality of the skeletal system Synovitis Avascular necrosis of the capital femoral epiphysis Kyphosis Abnormally shaped carpal bones Osteoarthritis Elbow dislocation Arthralgia Microcephaly Epiphyseal dysplasia Nystagmus Thoracic kyphosis Pain Talipes equinovarus Abnormal facial shape Dysphagia Syndactyly Macrocephaly Mandibular prognathia Feeding difficulties Ptosis Micrognathia Shortening of all proximal phalanges of the fingers Fibular hypoplasia Distal femoral bowing Corneal opacity Vertebral fusion Syringomyelia Soft skin Vertebral compression fractures Intraventricular hemorrhage Thin metacarpal cortices Severe short stature Scarring Short foot Shortening of all middle phalanges of the fingers Single transverse palmar crease Limb undergrowth Short long bone Hypoplasia of the radius Hypoplasia of the ulna Arthrogryposis multiplex congenita Short tibia Radial bowing Mesomelic short stature Camptodactyly Metatarsus adductus Abnormality of the foot Blue sclerae Pectus excavatum Prominent forehead Proptosis Osteopenia Sparse hair Flat face Decreased body weight Tall chin Cutis laxa Hyperextensible skin Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Cleft palate Calcaneovalgus deformity Facial asymmetry Hammertoe Talipes Muscle cramps Limitation of joint mobility Hip dysplasia Cutaneous syndactyly Deep philtrum Lower limb muscle weakness Cutaneous syndactyly of toes Mild short stature Short finger Abnormality of the musculature Distal arthrogryposis Trismus Symphalangism affecting the phalanges of the hand Decreased muscle mass Dyskinesia Osteoporosis Neurological speech impairment Abnormality of epiphysis morphology Lumbar hyperlordosis Pectus carinatum Hyperlordosis Arthritis Skeletal dysplasia Malar flattening Short neck Abnormality of the ankles Patellar dislocation Tarsal synostosis Abnormality of pelvic girdle bone morphology Bilateral single transverse palmar creases Short metacarpal Joint stiffness Spondyloepiphyseal dysplasia Abnormality of the dentition Ataxia Strabismus Cerebellar hypoplasia Oligodontia Skeletal muscle atrophy Depressivity Brachydactyly Delayed skeletal maturation Hyperkinesis Aseptic necrosis Lower limb asymmetry Cartilage destruction Cognitive impairment Coxa vara Short thorax Motor delay CNS hypomyelination Cerebral atrophy Encephalopathy Areflexia Abnormality of the acetabulum Chorea Epileptic encephalopathy Failure to thrive in infancy Intrauterine growth retardation Blepharospasm Diffuse cerebral atrophy Congenital microcephaly Muscle weakness Muscular hypotonia Delayed speech and language development Dystonia Peripheral neuropathy Disproportionate short stature Osteochondritis Dissecans Hypoplasia of the odontoid process Irregular vertebral endplates Upper limb undergrowth Barrel-shaped chest Hypoplastic iliac wing Multiple epiphyseal dysplasia Hip pain Spasticity Hip osteoarthritis Knee pain Cervical subluxation Childhood-onset short-trunk short stature Seizures Failure to thrive Craniofacial disproportion


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