Motor delay, and Hip dislocation

Diseases related with Motor delay and Hip dislocation

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


Top matches:

Medium match CENTRAL CORE DISEASE


Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Related symptoms:

  • Muscular hypotonia
  • Motor delay
  • Talipes equinovarus
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about CENTRAL CORE DISEASE

Medium match CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

Medium match OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Medium match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Medium match BETHLEM MYOPATHY 1; BTHLM1


BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Congenital hip dislocation Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Muscular dystrophy Neonatal hypotonia Kyphoscoliosis Congenital muscular dystrophy Flexion contracture Cardiomyopathy Skeletal muscle atrophy Muscular hypotonia Hypertelorism Pes planus Talipes equinovarus Respiratory insufficiency due to muscle weakness

Rare Symptoms - Less than 30% cases


Soft skin Joint dislocation Abnormal facial shape Ankle contracture Limb-girdle muscular dystrophy Low-set ears Frontal bossing Short neck Polyhydramnios Osteoarthritis Failure to thrive Generalized muscle weakness Proximal muscle weakness Myopathic facies Global developmental delay Facial palsy Hernia Decreased fetal movement Arthrogryposis multiplex congenita Minicore myopathy Centrally nucleated skeletal muscle fibers Inguinal hernia Torticollis Osteoporosis Cognitive impairment Intellectual disability Type 1 muscle fiber predominance Nemaline bodies Malignant hyperthermia Kyphosis Short stature Joint laxity Large for gestational age Congenital contracture Necrotizing myopathy Limb-girdle muscle atrophy Congenital muscular torticollis Diaphragmatic paralysis Abnormality of the skeletal system Abnormality of the mitochondrion Hypoplasia of penis Follicular hyperkeratosis Respiratory distress Limb-girdle muscle weakness Tall stature Respiratory failure Protruding ear Pointed chin Elbow flexion contracture Progressive muscle weakness Hyperkeratosis Plantar flexion contractures Lissencephaly Abnormality of the cardiovascular system Papule Camptodactyly of finger Distal muscle weakness Scarring Paralysis Rigidity Overgrowth Midface retrusion Seizures Micropenis Stooped posture Excessive wrinkled skin Microcephaly Growth delay High palate Wide nasal bridge Downslanted palpebral fissures Skeletal myopathy Hyperactivity Prominent forehead Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Behavioral abnormality Clinodactyly of the 5th finger Generalized limb muscle atrophy Spinal rigidity Wide nose Intrauterine growth retardation Short nose Cleft palate Feeding difficulties Attention deficit hyperactivity disorder Fever High forehead Fatigue Ophthalmoparesis Respiratory insufficiency Areflexia Hypertrophic cardiomyopathy Narrow mouth Talipes Muscle cramps Autism Subcutaneous hemorrhage Left ventricular noncompaction Poor wound healing Clinodactyly Intraventricular hemorrhage Thin metacarpal cortices Macrocephaly Malar flattening Obesity Pectus excavatum Agenesis of corpus callosum Thoracic kyphosis Pectus carinatum Finger syndactyly Genu valgum Brain atrophy Abnormality of epiphysis morphology Lymphedema Vertebral compression fractures Syringomyelia Molar tooth sign on MRI Waddling gait Muscle stiffness Easy fatigability Fetal akinesia sequence Bulbar signs Pelvic girdle muscle weakness Dyspnea Infantile muscular hypotonia Vertebral fusion Gowers sign Increased variability in muscle fiber diameter Fatty replacement of skeletal muscle Delayed speech and language development Platyspondyly Lower limb muscle weakness Decreased muscle mass Epiphyseal dysplasia Multiple epiphyseal dysplasia Hyperextensibility of the finger joints Recurrent fractures Gastroesophageal reflux Umbilical hernia Hyperlordosis Joint hyperflexibility Joint hypermobility Bruising susceptibility Blue sclerae Micrognathia Wormian bones Delayed gross motor development Hyperextensible skin Hallux valgus Atrophic scars Fragile skin Depressed nasal bridge Mitochondrial depletion Enlarged joints Dilated cardiomyopathy Ptosis Ventricular septal defect Atrial septal defect Congestive heart failure Arrhythmia Abnormal cardiac septum morphology Webbed neck Increased endomysial connective tissue Knee flexion contracture Radioulnar synostosis Calf muscle hypertrophy Difficulty climbing stairs Difficulty running Cleft soft palate Abnormal levels of creatine kinase in blood Disproportionate tall stature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Sparse scalp hair, related diseases and genetic alterations Microphthalmia and Renal hypoplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more