Intellectual disability, severe, and Hip dislocation

Diseases related with Intellectual disability, severe and Hip dislocation

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

Top matches:

Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

Other less relevant matches:

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

High match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Hip dislocation

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Hip dislocation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Flexion contracture Strabismus Hypertelorism Ventriculomegaly Dilatation Cataract Dolichocephaly Open mouth Respiratory insufficiency Cryptorchidism Congenital hip dislocation Skeletal muscle atrophy Respiratory distress Facial palsy Muscle weakness Cognitive impairment Motor delay Macrocephaly Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Low-set ears Areflexia Abnormal heart morphology Elevated serum creatine phosphokinase Abnormal facial shape Congenital muscular dystrophy Talipes equinovarus Micropenis Neonatal hypotonia Muscular dystrophy Cerebellar hypoplasia Myopia Epicanthus Intellectual disability, moderate Microphthalmia Short stature

Rare Symptoms - Less than 30% cases

Atrial septal defect Abnormality of the periventricular white matter Calf muscle hypertrophy Skeletal muscle hypertrophy Clinodactyly of the 5th finger Cerebellar vermis hypoplasia Macroglossia Optic atrophy Coloboma Long philtrum Visual impairment Hyperlordosis Ventricular septal defect Frontal bossing Agenesis of corpus callosum High palate Hypertonia Spasticity Gait disturbance Polymicrogyria Pachygyria Deep philtrum Lissencephaly Single transverse palmar crease Nystagmus Wide mouth Intrauterine growth retardation Thin upper lip vermilion Coarse facial features Clinodactyly Weak cry Short nose Short neck Hydronephrosis Respiratory failure Generalized muscle weakness Intellectual disability, mild Mask-like facies Absent speech Gastroesophageal reflux Intellectual disability, profound Holoprosencephaly Depressed nasal bridge Hearing impairment Iris coloboma Hydrocephalus Autism Micrognathia EMG abnormality Intellectual disability, progressive Abnormality of cardiovascular system morphology Absence seizures Myopathy Camptodactyly of finger Arthrogryposis multiplex congenita Ptosis Brachydactyly Delayed speech and language development Aplasia/Hypoplasia of the corpus callosum Thickened helices Hypermetropia Finger syndactyly Congenital cataract Pulmonic stenosis Hypotelorism Retinoblastoma Retinal detachment Wide anterior fontanel Abnormal cerebellum morphology Brain atrophy Encephalocele Preauricular skin tag Webbed neck Bradycardia Hemivertebrae Anteverted ears Knee flexion contracture Dilated cardiomyopathy Leukocoria Abnormality of the pinna Patent foramen ovale Pectus excavatum Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Absent septum pellucidum Supernumerary nipple Trigonocephaly Thin vermilion border Abnormal dermatoglyphics Finger clinodactyly Brachycephaly Everted lower lip vermilion Glaucoma EEG abnormality Rigidity Apnea Bulbous nose Thick eyebrow Plagiocephaly Congestive heart failure Hypoplasia of the brainstem Genu varum Microcornea Prominent nose Esotropia Renal agenesis Convex nasal ridge Progressive visual loss Bilateral sensorineural hearing impairment Thick lower lip vermilion Dental crowding Short toe Short chin Aortic regurgitation Abnormal palate morphology Relative macrocephaly Long face Aortic aneurysm Chorioretinal coloboma Unilateral renal agenesis Bowing of the legs Congenital nystagmus Neurogenic bladder Hypoplasia of teeth Profound global developmental delay Colpocephaly Short upper lip Lens luxation Lop ear Scleral staphyloma Short 2nd toe Highly arched eyebrow Joint hyperflexibility Increased variability in muscle fiber diameter Exaggerated startle response Multiple joint contractures Generalized amyotrophy Cortical dysplasia Spinal rigidity Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Anencephaly Ankle contracture Retinal dysplasia Myocardial fibrosis Buphthalmos Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Facial asymmetry Agyria Hypoglycosylation of alpha-dystroglycan Thoracic hemivertebrae Cephalocele Hypoplasia of the pyramidal tract Sensorineural hearing impairment Downslanted palpebral fissures Abnormality of the skeletal system Patent ductus arteriosus Gait ataxia Pes planus Telecanthus Mental deterioration Corneal opacity Broad forehead Poor suck Prominent nasal bridge Anteverted nares First degree atrioventricular block Hernia of the abdominal wall Hyporeflexia Cerebral cortical atrophy Proximal muscle weakness Retinopathy Pigmentary retinopathy Ventricular hypertrophy Left ventricular hypertrophy Left ventricular systolic dysfunction Cleft palate Obesity Abnormality of the upper urinary tract Inguinal hernia Pneumonia Posteriorly rotated ears Respiratory tract infection Wide nose Tapered finger Wide intermamillary distance Small nail Broad thumb Multicystic kidney dysplasia Recurrent upper respiratory tract infections Radial deviation of finger Abnormal hair quantity Testicular atrophy Broad palm Hip dysplasia Ataxia Hyperreflexia Babinski sign Spastic paraplegia Abnormality of movement Paraplegia Spastic tetraplegia Cerebral palsy Spastic diplegia Abnormality of brain morphology Autistic behavior Microretrognathia Abnormality of the endocrine system Hammertoe Knee dislocation Atypical absence seizures Pain Kyphosis Hyperactivity Hirsutism Small hand Short foot Bruxism Myotonia Non-midline cleft lip Short finger Hyperactive deep tendon reflexes Protruding ear Impaired mastication Recurrent lower respiratory tract infections Myositis Abnormal cortical gyration Reduced ejection fraction Atelectasis Astrocytosis Cerebral edema Increased connective tissue Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Increased endomysial connective tissue Hypoventilation Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Abnormality of the temporomandibular joint Intercostal muscle weakness Abnormal brainstem MRI signal intensity Absent muscle fiber merosin Highly elevated creatine phosphokinase Growth delay Wide nasal bridge Hernia High forehead Muscular hypotonia of the trunk Abnormality of visual evoked potentials Protruding tongue Scaphocephaly Ophthalmoplegia Thickened nuchal skin fold Abnormality of the rib cage U-Shaped upper lip vermilion Facial capillary hemangioma Dysphagia Cardiomyopathy Abnormality of metabolism/homeostasis Arrhythmia Kyphoscoliosis Feeding difficulties in infancy Paralysis Inability to walk Hypokinesia Focal-onset seizure Bradykinesia Pulmonary arterial hypertension Heterotopia Decreased body weight Progressive muscle weakness Sensorimotor neuropathy Aspiration Respiratory insufficiency due to muscle weakness Focal impaired awareness seizure Limb-girdle muscular dystrophy Myopathic facies Posterior staphyloma


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