Intellectual disability, severe, and Narrow chest

Diseases related with Intellectual disability, severe and Narrow chest

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 90; MRX90

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Other less relevant matches:

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

High match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

High match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM 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

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Narrow chest

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Growth delay High palate Microcephaly Dilatation Intellectual disability, mild Kyphosis Hearing impairment Short stature Flexion contracture Gastroesophageal reflux Severe global developmental delay Long face Ptosis Autism Micrognathia Hernia Developmental regression Muscular hypotonia Midface retrusion Diarrhea Abnormality of the skeletal system Joint hyperflexibility Talipes equinovarus Inguinal hernia Osteoporosis Umbilical hernia Abnormal facial shape Generalized-onset seizure Intellectual disability, profound Low-set ears Skeletal muscle atrophy Camptodactyly Strabismus Hypoplasia of the corpus callosum Syndactyly High, narrow palate Platyspondyly Behavioral abnormality Hydronephrosis Camptodactyly of finger Narrow face

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Brachycephaly Down-sloping shoulders Brain atrophy Joint laxity Malabsorption Neurodegeneration Full cheeks Sparse scalp hair Abnormality of the face Chronic diarrhea Jaundice Hypertonia Wide intermamillary distance Lumbar hyperlordosis Wormian bones Dental crowding Intrauterine growth retardation Joint contracture of the hand Pyloric stenosis Self-injurious behavior Abnormality of dental morphology Bilateral cryptorchidism Short clavicles External ear malformation Abnormality of the clavicle Failure to thrive Rectal prolapse Thickened skin Hepatomegaly Joint dislocation Osteolysis Vesicoureteral reflux Narrow palate Downslanted palpebral fissures Long philtrum Osteopenia Genu valgum Hip dysplasia Convex nasal ridge Cerebral calcification Redundant skin Hirsutism Dislocated radial head Thick hair Neoplasm Hydrocephalus Agenesis of corpus callosum Synophrys Nevus Otitis media High myopia Sleep apnea Short foot Short palm Cutis laxa Oral cleft Abnormal palate morphology Coarse hair Hyperextensible skin Exostoses Atypical scarring of skin Hypothermia Bladder diverticulum Venous insufficiency Hypertelorism Depressed nasal bridge Wide nasal bridge Broad forehead Ventricular septal defect Atrial septal defect Congestive heart failure Malar flattening Narrow mouth Hypothyroidism Polyhydramnios Retrognathia Conductive hearing impairment Craniosynostosis Cleft upper lip Abnormality of the kidney Dysphagia Macrotia Abnormality of the foot Aplasia/Hypoplasia of the corpus callosum Abnormality of cardiovascular system morphology Microphthalmia Frontal bossing Abnormality of the dentition Feeding difficulties in infancy Deeply set eye Motor delay Gait ataxia Hypoplasia of the maxilla Cerebral cortical atrophy Prominent forehead Cataract Mandibular prognathia Pectus carinatum Cerebellar atrophy Upslanted palpebral fissure Ventriculomegaly Delayed speech and language development Macrocephaly Prominent nasal bridge Aggressive behavior Finger syndactyly Glaucoma Abnormality of the pinna Decreased body weight Ataxia Clonus Nystagmus Gynecomastia Anonychia Pes cavus Babinski sign Truncal obesity Areflexia Ankle clonus Myopathy Mixed hearing impairment Anteverted nares Gait disturbance Peripheral neuropathy Basal ganglia calcification Anemia Hypogonadism Metatarsus adductus Diabetes mellitus Distal amyotrophy Thick lower lip vermilion Bradykinesia Enuresis Hypergonadotropic hypogonadism Downturned corners of mouth Paraparesis Humerus varus Knee flexion contracture Abnormal form of the vertebral bodies Spastic paraparesis Plagiocephaly Congenital cataract Schizophrenia Abnormal pyramidal sign Protruding ear Melanocytic nevus Short distal phalanx of finger Toe syndactyly Carotid artery tortuosity Delayed cranial suture closure Premature skin wrinkling Esophagitis Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Acute kidney injury Short humerus Osteomalacia Orthostatic hypotension Limited elbow extension Rickets Generalized joint laxity Bilateral ptosis Growth abnormality Poor suck Nasal speech Coxa vara Coxa valga Large fontanelles Recurrent urinary tract infections Cholestasis Blue sclerae Hepatitis Abnormality of the wrist Broad ribs Aortic rupture Large iliac wings Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Limited knee extension Congenital hypothyroidism Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Broad clavicles Prominent superficial veins Long neck Synostosis of joints Absent tibia Abnormality of the sense of smell Keloids Gastroparesis Aplastic clavicle Arachnodactyly Femoral hernia Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Sparse body hair Thoracic kyphosis Hip contracture Severe intrauterine growth retardation Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Nevus flammeus Ulnar deviation of the wrist Underdeveloped supraorbital ridges Prominent metopic ridge Ulnar deviation of finger Biparietal narrowing Broad palm Short thorax Supernumerary nipple Overlapping toe Hypoplasia of the brainstem Nephroblastoma Elbow dislocation Accessory oral frenulum Facial hemangioma CNS hypomyelination Wide anterior fontanel Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Tibial bowing Femoral bowing Mesomelia Thoracic hypoplasia Acanthosis nigricans Exotropia Mesomelic/rhizomelic limb shortening Rhizomelia Pulmonary arterial hypertension Epidermal acanthosis Micromelia Skeletal dysplasia Respiratory failure Severe short stature Delayed peripheral myelination Hyperechogenic pancreas Facial capillary hemangioma Nevus flammeus of the forehead Trigonocephaly Hemangioma Striae distensae Ectopic calcification Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Recurrent ear infections Cleft palate Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Specific learning disability Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Superiorly displaced ears Feeding difficulties Sacral dimple Limitation of joint mobility Elbow flexion contracture Low anterior hairline Bradycardia Short toe Heterotopia Hypertrichosis Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Narrow forehead Dandy-Walker malformation Intestinal malrotation Tapered finger Myopia Everted lower lip vermilion Talipes Retinopathy Apnea Cleft lip Muscular hypotonia of the trunk Proptosis Posteriorly rotated ears Recurrent infections Short neck Optic atrophy Abnormality of the sternum Renal insufficiency Abnormality of the musculature Dry skin Progressive neurologic deterioration Fine hair Tetraparesis Gastrointestinal hemorrhage Chorea Aplasia/Hypoplasia of the cerebellum Sepsis Recurrent fractures Hypopigmentation of the skin Decreased muscle mass Nausea and vomiting Choreoathetosis Bowel incontinence Sparse hair Dysphasia Hypoglycemia Long nose Slender finger Atrophy/Degeneration affecting the brainstem Dyslexia Dementia Abnormality of the nose Abnormality of the thorax Abnormality of the metaphysis Cerebral atrophy Mask-like facies Stereotypy Abnormality of lipid metabolism Hypopigmentation of hair Prolonged neonatal jaundice Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Metaphyseal widening Bowing of the long bones Intracranial hemorrhage Truncal ataxia Intellectual disability, progressive Shock Drooling Spastic tetraparesis Infantile muscular hypotonia Mutism Hyperkinesis Adducted thumb Cachexia Happy demeanor Inappropriate laughter Woolly hair Aganglionic megacolon Proximal placement of thumb Clubbing Overfolded helix Chorioretinal coloboma Clinodactyly of the 5th finger Renal hypoplasia/aplasia Bicuspid aortic valve Muscle stiffness Kyphoscoliosis Preauricular skin tag Recurrent otitis media Anophthalmia Renal hypoplasia Low-set, posteriorly rotated ears Hyperlordosis Webbed neck Microcornea Autistic behavior Coloboma Iris coloboma Pulmonary hypoplasia Neurological speech impairment Clinodactyly Radial deviation of finger Conspicuously happy disposition Complete duplication of thumb phalanx Fatigue Photosensitive tonic-clonic seizures Dysarthria Spasticity Loss of ability to walk in first decade Muscle weakness Visual impairment Ciliary body coloboma Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Long thorax Hypospadias Abnormality of the shoulder Ankyloblepharon Shield chest Optic nerve coloboma Misalignment of teeth Sclerocornea Blindness Self-mutilation Agenesis of permanent teeth Hydroureter Spastic diplegia Postnatal microcephaly Pili torti Long foot Palpebral edema Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Polysplenia Coronal craniosynostosis Increased number of teeth Chylothorax Cutaneous finger syndactyly Pericardial effusion Ectopic kidney Pleural effusion Hypoalbuminemia Reduced number of teeth Oligodontia Cutaneous syndactyly Abnormal intestine morphology Spina bifida occulta Periorbital edema Primary hypothyroidism Hypocalcemia Hyperreflexia Bruising susceptibility Joint hypermobility Slender build Dolichocephaly Hip dislocation Scarring Pes planus High forehead Anal atresia Pain Brachydactyly Abnormal oral mucosa morphology Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Horseshoe kidney Bilateral single transverse palmar creases Chondrocalcinosis Neuronal loss in central nervous system Poor speech Respiratory distress Respiratory insufficiency Unsteady gait Thick eyebrow Sleep disturbance Urinary incontinence Epicanthus Epileptic encephalopathy Cognitive impairment Sensorineural hearing impairment Abnormality of eye movement Open mouth Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Involuntary movements Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Edema Splenomegaly Lymphopenia Lymphadenopathy Hydrops fetalis Lymphedema Gingival overgrowth Pachygyria Decreased antibody level in blood Ascites Small hand Dystonia Absent speech Flat face Smooth philtrum Ophthalmoplegia Encephalopathy Microtia Short philtrum Respiratory tract infection Intellectual disability, moderate Hepatosplenomegaly Abnormality of the eye Arthrogryposis multiplex congenita Hyperactivity Recurrent respiratory infections Delayed skeletal maturation Enlarged cerebellum


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