Intellectual disability, severe, and Hip dysplasia

Diseases related with Intellectual disability, severe and Hip dysplasia

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

Top matches:

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

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Other less relevant matches:

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

High palate Microcephaly Ptosis Genu valgum Cataract Hernia Short palm Brachycephaly Gait ataxia Inguinal hernia Synophrys Hearing impairment Abnormal facial shape Depressed nasal bridge Skeletal muscle atrophy Growth delay Coarse facial features Hip dislocation Intellectual disability, mild Autism Ataxia Osteopenia Micrognathia Strabismus Umbilical hernia Pectus excavatum Broad forehead Clinodactyly of the 5th finger Behavioral abnormality Malar flattening Cryptorchidism Gastroesophageal reflux Motor delay Myopia Nystagmus Protruding ear Deeply set eye Osteolysis Osteoporosis Talipes equinovarus Downslanted palpebral fissures Macrotia Anteverted nares Neurological speech impairment Pectus carinatum Kyphoscoliosis Thick eyebrow Areflexia Hypertonia Myopathy Brachydactyly Thickened skin Widely spaced teeth Low anterior hairline Highly arched eyebrow Downturned corners of mouth Aseptic necrosis Peripheral neuropathy Hydrocephalus Hypothyroidism Corneal opacity Macrocephaly Delayed skeletal maturation Joint stiffness Glaucoma

Rare Symptoms - Less than 30% cases

Renal insufficiency Hypertelorism Synostosis of joints Failure to thrive Muscle weakness Epicanthus Prominent nose Spasticity Dysarthria Microtia Optic atrophy Postnatal growth retardation Self-injurious behavior Infantile muscular hypotonia Absence seizures Sandal gap Short chin Abnormality of cardiovascular system morphology Primary amenorrhea Prominent forehead Dental crowding Camptodactyly of finger Hypoplasia of penis Mandibular prognathia High forehead Sleep disturbance Short foot Autistic behavior Skeletal dysplasia Cerebellar atrophy Cerebral atrophy Abnormality of the pinna Anxiety Midface retrusion Babinski sign Avascular necrosis of the capital femoral epiphysis Delayed eruption of teeth Thin vermilion border Neurodegeneration Conductive hearing impairment Gait disturbance Sensorineural hearing impairment Ventricular septal defect Ventriculomegaly Short neck Otitis media Long philtrum Abnormality of the metacarpal bones Coxa valga Recurrent infections Truncal obesity Severe short stature Hypogonadism Cerebral cortical atrophy Pes planus Clinodactyly Intrauterine growth retardation Congenital cataract Hypergonadotropic hypogonadism Smooth philtrum Microcornea Progressive cerebellar ataxia Decreased antibody level in blood Specific learning disability Hypertrichosis Limb ataxia Small hand Generalized hirsutism Thoracolumbar kyphosis Broad clavicles Dolichocephaly Splenomegaly Short nose Intellectual disability, moderate Frontal bossing Macroglossia Vacuolated lymphocytes Thoracic kyphosis Delayed cranial suture closure Hepatosplenomegaly Metatarsus adductus Delayed speech and language development Flat occiput Hirsutism Gynecomastia Wormian bones Gingival overgrowth Dental malocclusion Cerebral calcification Progressive neurologic deterioration Narrow chest Broad ribs Hypermetropia Hepatomegaly Wide mouth Aggressive behavior Feeding difficulties in infancy Bowing of the long bones Dysostosis multiplex Low-set ears Aortic rupture Anemia Carotid artery tortuosity Hyperextensible skin Hypoplasia of the corpus callosum Bilateral ptosis Microphthalmia Poor suck Coarse hair Neoplasm Redundant skin Humerus varus Abnormality of fibula morphology Cutis laxa Large fontanelles Abnormality of dental structure Hepatitis Blue sclerae Progressive joint destruction Cholestasis Recurrent urinary tract infections Abnormality of the face Nevus Hypoplasia of the maxilla Short distal phalanx of finger Agenesis of corpus callosum Distal amyotrophy Prominent nasal bridge Chronic diarrhea Narrow face Abnormal pyramidal sign Developmental regression Narrow mouth Diabetes mellitus Pes cavus Coxa vara Short clavicles Abnormality of esophagus physiology Esophagitis Large iliac wings Long neck Down-sloping shoulders Absent tibia Abnormality of the sense of smell Flattened moderately deformed vertebrae Keloids Gastroparesis Hypothermia Capitate-hamate fusion Premature skin wrinkling Abnormality of the wrist Aplastic clavicle Thick hair Generalized joint laxity Femoral hernia Prominent superficial veins Venous insufficiency Abnormality of the pubic bone Aplasia/hypoplasia of the humerus Rickets Bladder diverticulum Limited elbow extension Orthostatic hypotension Synovial hypertrophy Ureteral obstruction Osteomalacia Dislocated radial head Short humerus Acute kidney injury Persistent open anterior fontanelle Atypical scarring of skin Limited knee extension Bladder carcinoma Exostoses Soft skin Carpal synostosis Hiatus hernia Pelvic bone exostoses Rudimentary to absent tibiae Abnormality of the skull Abnormal cornea morphology Poor coordination Bradykinesia Long ear Depressed nasal ridge Psychosis Pancytopenia Abnormal echocardiogram Cranial hyperostosis Type II diabetes mellitus Optic disc pallor Abnormality of the gingiva Peripheral demyelination Delayed myelination Gliosis Retinal degeneration Amblyopia Retinal thinning Confusion Cerebral dysmyelination Dysmetria Abnormality of the foot Abnormality of the cerebral white matter Oligosacchariduria Respiratory tract infection Mental deterioration Arthritis Spondylolysis Increased vertebral height Tall stature Hallucinations Recurrent respiratory infections Bronchitis Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Synovitis Reduced ejection fraction Hydrocele testis Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Limb dystonia Thickened calvaria Spastic gait Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Narrow palate Increased hepatic glycogen content Generalized abnormality of skin Antineutrophil antibody positivity Mixed hearing impairment Progressive gait ataxia Abnormality of the rib cage Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Anonychia Dystrophic fingernails Bilateral cryptorchidism Melanocytic nevus Schizophrenia Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Clonus Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Broad face Tics Depressivity Torus palatinus Immunodeficiency Abnormality of the dentition Hyperreflexia Cognitive impairment Pain Superiorly displaced ears Decreased pulmonary function Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Motor tics Generalized osteoporosis Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Hypoplastic inferior ilia High, narrow palate Abnormality of the ilium Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Abnormality of joint mobility Convex nasal ridge Hypoplastic nipples Bruising susceptibility EEG abnormality Open mouth Epileptic encephalopathy Febrile seizures Focal-onset seizure Esotropia Everted lower lip vermilion Bulbous nose Astigmatism Facial asymmetry Thin upper lip vermilion Finger clinodactyly Retrognathia Hyperactivity Constipation Encephalopathy Vomiting Fever Visual impairment Feeding difficulties Anterior wedging of L2 Anterior wedging of L1 Stereotypy Tented upper lip vermilion Dermatan sulfate excretion in urine Rigidity Short metatarsal Dysphonia Type I diabetes mellitus Muscle stiffness Sensorimotor neuropathy Short thumb Progressive muscle weakness Short metacarpal Dyskinesia Muscular dystrophy Cerebellar hypoplasia Focal impaired awareness seizure Elevated serum creatine phosphokinase Hyporeflexia Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Polyphagia Cupped ear Language impairment Hypoplastic acetabulae Cervical cord compression Congenital muscular dystrophy Madelung deformity Spastic tetraplegia Waddling gait Tetraplegia Retinopathy Apnea Edema Cardiomyopathy Respiratory distress Lumbar scoliosis Abnormality of the carpal bones Central hypothyroidism Tetraparesis Hypoplasia of the uterus Hypotelorism Amenorrhea Severe global developmental delay Obesity Atypical absence seizures Knee dislocation Hammertoe Microretrognathia Arthrogryposis multiplex congenita Lumbar hyperlordosis Split hand Cervical instability Hypoplasia of the odontoid process Cervical myelopathy Prominent sternum Retinal fold Myelopathy Constrictive median neuropathy Flared iliac wings Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Obstructive sleep apnea Spinal canal stenosis Decreased body weight Abnormal heart valve morphology Metaphyseal irregularity Metaphyseal widening Epiphyseal dysplasia Recurrent upper respiratory tract infections Sleep apnea Spastic tetraparesis Accelerated skeletal maturation Opacification of the corneal stroma Aortic valve stenosis Cubitus valgus Myopathic facies Joint hypermobility Full cheeks Congenital glaucoma Flared metaphysis Tricuspid regurgitation Acne Cholelithiasis Short long bone Wide anterior fontanel Short phalanx of finger Interphalangeal joint contracture of finger Mitral valve prolapse Broad nasal tip Premature loss of teeth Single transverse palmar crease Thick vermilion border Short philtrum Camptodactyly Proptosis Respiratory failure Abnormal heart morphology Congestive heart failure Wide nasal bridge Abnormally low-pitched voice Megalocornea Double outlet right ventricle Phthisis bulbi Anterior concavity of thoracic vertebrae Long face Joint hyperflexibility Platyspondyly Scarring Joint laxity Hydronephrosis Jaundice Dilatation Diarrhea Dysphagia Cortical irregularity Genu recurvatum Serpentine fibula Prominent coccyx Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Anterior segment developmental abnormality Buphthalmos Concave nasal ridge Beaking of vertebral bodies Abnormally large globe Prenatal movement abnormality Curly eyelashes External genital hypoplasia Abnormal lactate dehydrogenase activity Talipes Delayed puberty Toe syndactyly Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Hypospadias Atrial septal defect Cleft palate Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Cerebellar cortical atrophy Vesicoureteral reflux Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Autophagic vacuoles Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles Micromelia Premature birth Increased nuchal translucency Obsessive-compulsive behavior Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Severe postnatal growth retardation Blepharitis Oligodactyly Cutis marmorata Aplasia/Hypoplasia of the cerebellum Proximal placement of thumb Intestinal malrotation Elbow dislocation Radioulnar synostosis Pyloric stenosis Atresia of the external auditory canal Multicystic kidney dysplasia Bilateral single transverse palmar creases Long eyelashes Choanal atresia Low posterior hairline Congenital diaphragmatic hernia Spinocerebellar tract disease in lower limbs


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