Intellectual disability, and Hyperlordosis

Diseases related with Intellectual disability and Hyperlordosis

In the following list you will find some of the most common rare diseases related to Intellectual disability and Hyperlordosis that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME

Medium match HYPOCHONDROPLASIA

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Other less relevant matches:

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Medium match MYOTONIA PERMANENS

Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Epicanthus
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA PERMANENS

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as myh7-related late-onset scapuloperoneal syndrome|myh7-related late-onset spmd

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Gait disturbance
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

Medium match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Hyperlordosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Lumbar hyperlordosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Hyperlordosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Difficulty walking Muscle weakness Flexion contracture Elevated serum creatine phosphokinase Strabismus Generalized hypotonia Seizures Macrocephaly Cognitive impairment

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Progressive muscle weakness Muscle cramps Micromelia Gowers sign Pes planus Hyperreflexia Delayed speech and language development Spinal rigidity Abnormal form of the vertebral bodies Spasticity Increased variability in muscle fiber diameter Microcephaly Facial palsy Hyporeflexia Motor delay Pes cavus Talipes equinovarus Skeletal muscle atrophy Muscular dystrophy Abnormality of the metaphysis Abnormal cardiac septum morphology Abnormality of the cardiovascular system Foot dorsiflexor weakness Scapular winging Reduced tendon reflexes Centrally nucleated skeletal muscle fibers EMG: myopathic abnormalities Heart murmur Steppage gait Myopathic facies Upper limb muscle weakness Shoulder girdle muscle weakness Spondyloepiphyseal dysplasia Arrhythmia Lower limb spasticity Hypertension Rigidity Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Cataract Respiratory insufficiency Flared iliac wings Proximal muscle weakness Increased adipose tissue Dysostosis multiplex Abnormality of the rib cage Spastic gait Congenital muscular dystrophy Toe walking Abnormality of the hand Increased connective tissue Abnormal pyramidal sign Limited hip movement Chronic obstructive pulmonary disease Paraparesis Babinski sign Agenesis of corpus callosum Abnormality of the nervous system Camptodactyly of finger Spastic paraplegia Paraplegia Interphalangeal joint contracture of finger Muscle stiffness Spastic paraparesis Hydrocephalus Adducted thumb Hemiplegia/hemiparesis Aphasia Progressive spasticity Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Clinodactyly of the 5th finger Ventriculomegaly Distal lower limb muscle weakness Opacification of the corneal stroma Left ventricular failure Muscle fiber splitting Hand muscle weakness Shoulder girdle muscle atrophy Proximal lower limb amyotrophy Increased endomysial connective tissue Upper limb amyotrophy Left anterior fascicular block Enlargement of the ankles Limitation of movement at ankles Limited shoulder movement Tibialis muscle weakness Limited neck flexion Limited wrist extension Decreased Achilles reflex Triceps weakness Abnormality of the foot musculature Beevor's sign Decreased patellar reflex Aortic regurgitation Myotonia Aortic valve stenosis Abnormality of the dentition Sleep apnea Abnormality of pelvic girdle bone morphology Genu varum Spinal canal stenosis Abnormality of the elbow Abnormality of femur morphology Childhood onset short-limb short stature Kyphoscoliosis Bowing of the long bones Platyspondyly Delayed eruption of teeth Cerebral calcification Abnormality of epiphysis morphology Rhizomelia Spondylometaphyseal dysplasia Progressive spastic quadriplegia Large iliac wings Short toe Osteoarthritis Abnormality of the tibial metaphysis Myopathy Intellectual disability, severe Unsteady gait Waddling gait Limb-girdle muscular dystrophy Ankle contracture Limb-girdle muscle weakness Hypoglycosylation of alpha-dystroglycan Tonsillitis Behavioral abnormality Joint hyperflexibility Abnormality of the foot Inability to walk Elbow flexion contracture Nemaline bodies Achilles tendon contracture Myofibrillar myopathy Brachydactyly Skeletal dysplasia Abnormality of ulnar metaphysis Metaphyseal enchondromatosis Cardiomegaly Generalized muscle hypertrophy Ophthalmoplegia Chest pain Asthma Limitation of joint mobility EMG abnormality Abnormality of the voice Ophthalmoparesis Skeletal muscle hypertrophy Pain Dyspnea Myopia Abnormality of the skeletal system Short neck Arthralgia Coarse facial features Joint stiffness Pectus carinatum Genu valgum Myalgia Hypertonia Abnormality of radial metaphyses Broad forehead Failure to thrive Feeding difficulties Tremor Frontal bossing Hyperactivity Gastroesophageal reflux Deeply set eye Microtia Neurological speech impairment Dysphagia Poor speech Long face Generalized myoclonic seizures Delayed myelination Focal-onset seizure Delayed gross motor development Postnatal macrocephaly Epicanthus Severe hydrocephalus


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