Intellectual disability, severe, and Osteoporosis

Diseases related with Intellectual disability, severe and Osteoporosis

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


Top matches:

High match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2


Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

High match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

High match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Mendelian

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

Learn more

Other less relevant matches:

High match WARBURG MICRO SYNDROME 1; WARBM1


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

High match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

High match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

High match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

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 FRANK-TER HAAR 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

High match FUCOSIDOSIS


Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Brachycephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Micrognathia Deeply set eye Hernia Flexion contracture Thin vermilion border Cryptorchidism Long philtrum Hyperreflexia Kyphoscoliosis Sparse hair Osteopenia Delayed skeletal maturation Hypertonia Muscle weakness Anteverted nares Spasticity Camptodactyly Hypertelorism Hearing impairment Prominent forehead Fine hair Depressed nasal bridge Agenesis of corpus callosum Scoliosis Kyphosis Narrow mouth Brachydactyly Short palpebral fissure Hyperextensible skin Downslanted palpebral fissures Blepharophimosis Full cheeks Short palm Smooth philtrum Inguinal hernia Coarse facial features Cerebellar atrophy Cerebral atrophy Wide nasal bridge Feeding difficulties Motor delay Intellectual disability, profound High palate Corneal opacity Severe global developmental delay Jaundice

Rare Symptoms - Less than 30% cases


Dry skin Absent speech Bowing of the long bones Abnormality of cardiovascular system morphology Ptosis Autism Convex nasal ridge Wormian bones Thickened skin Tetraparesis Intrauterine growth retardation Severe short stature Posteriorly rotated ears Skeletal dysplasia Hypogonadism Gingival overgrowth Glaucoma Neurodevelopmental delay Aggressive behavior Vacuolated lymphocytes Spastic tetraparesis Overlapping toe Thick eyebrow Postnatal growth retardation Abnormality of the cerebral white matter Hyperhidrosis High forehead Pectus excavatum Concave nasal ridge Joint laxity Prolonged neonatal jaundice Short philtrum Broad forehead Joint hyperflexibility Midface retrusion Dental malocclusion Decreased testicular size Myopathic facies Abnormality of digit Fatigue Delayed cranial suture closure Macroglossia Hypoglycemia Clinodactyly of the 5th finger Malar flattening Wide mouth Short phalanx of finger Poor speech Hypothyroidism Wide nose Highly arched eyebrow Broad nasal tip Sparse scalp hair Broad-based gait Long eyelashes Joint dislocation Behavioral abnormality Drooling Abnormality of the metacarpal bones Coxa valga Low-set ears Delayed speech and language development Umbilical hernia Frontal bossing Talipes equinovarus Abnormality of the dentition Strabismus Macrocephaly Edema Nausea and vomiting Delayed myelination Cerebellar hypoplasia Malabsorption Neurodegeneration Macrotia Epicanthus Brain atrophy Wide intermamillary distance Hirsutism Congenital cataract Muscular hypotonia of the trunk Recurrent fractures Arthrogryposis multiplex congenita Hepatomegaly Prominent nasal bridge Skeletal muscle atrophy Prominent nose Diarrhea Sensorineural hearing impairment Cutis laxa Cataract Ventriculomegaly Splenomegaly Hypoplasia of the corpus callosum Cognitive impairment Microphthalmia Abnormality of the face Intellectual disability, mild Syndactyly Gastrointestinal hemorrhage Chorea Microtia Chronic diarrhea Generalized-onset seizure Progressive neurologic deterioration Choreoathetosis Abnormality of the metaphysis Shock Intracranial hemorrhage Abnormal palate morphology Hypothermia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Atypical scarring of skin Coarse hair Exostoses Abnormality of lipid metabolism Hypopigmentation of hair Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Cerebral hemorrhage Mask-like facies Metaphyseal widening Hypopigmentation of the skin Sepsis Decreased antibody level in blood Flat face Hypogonadotrophic hypogonadism Severe postnatal growth retardation Hypopituitarism Absent septum pellucidum Hypoproteinemia Hypoplastic left heart Intestinal lymphangiectasia Adrenal insufficiency Optic nerve hypoplasia Holoprosencephaly Hoarse voice Short attention span Aspiration Depressed nasal ridge Amenorrhea Hypotension Growth hormone deficiency Erysipelas Ascites Infertility Delayed puberty Pulmonic stenosis Aspiration pneumonia Lymphopenia Narrow chest Abnormality of secondary sexual hair Feeding difficulties in infancy Developmental regression Abnormal carotid artery morphology Dementia Lymphedema Dilatation Dysarthria Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Decreased cervical spine mobility Pituitary hypothyroidism Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Absence of secondary sex characteristics Hypocupremia Elbow flexion contracture Metaphyseal spurs Decreased body weight Hypoplasia of the odontoid process Lipoatrophy Decreased muscle mass Anhidrosis Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the nail Spastic gait Telangiectasia Abnormal form of the vertebral bodies Dysostosis multiplex Spastic tetraplegia Cardiomegaly Abnormality of the cardiovascular system Dysmetria Abnormal pyramidal sign Conductive hearing impairment Hyperkeratosis Recurrent respiratory infections Recurrent infections Dystonia Acrocyanosis Visceromegaly Anterior concavity of thoracic vertebrae Abnormal globus pallidus morphology Glycopeptiduria Tortuosity of conjunctival vessels Elevated sweat chloride Abnormality of central motor function Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased hepatic glycogen content Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Angiokeratoma corporis diffusum Abnormal cornea morphology Oligosacchariduria Abnormality of the gallbladder Progressive psychomotor deterioration Angiokeratoma Broad long bones Generalized hyperkeratosis Vascular skin abnormality Cerebral hypomyelination Abnormality of the abdominal wall Mucopolysacchariduria Gait disturbance Cortical irregularity Therapeutic abortion Camptodactyly of finger Gynecomastia Wide anterior fontanel Interphalangeal joint contracture of finger Mitral valve prolapse Hip dysplasia Delayed eruption of teeth Single transverse palmar crease Thick vermilion border Genu valgum Joint stiffness Osteolysis Protruding ear Abnormality of the pinna Irregular dentition Mandibular prognathia Proptosis Respiratory failure Abnormal heart morphology Congestive heart failure Ventricular septal defect Abnormality of the skeletal system Short chin Short long bone Serpentine fibula Abnormally large globe Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Thoracolumbar kyphosis Anterior segment developmental abnormality Buphthalmos Beaking of vertebral bodies Genu recurvatum Cholelithiasis Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Congenital glaucoma Flared metaphysis Metatarsus adductus Tricuspid regurgitation Flat occiput Acne Abnormality of the eye Incomprehensible speech Polyhydramnios Small for gestational age Everted lower lip vermilion High, narrow palate Increased serum ferritin Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Psychotic episodes Synophrys Hypotrichosis Alveolar proteinosis Triangular face Autistic behavior Oroticaciduria Pulmonary hemorrhage Protein avoidance Ornithinuria Alopecia Obesity Argininuria Asterixis Glomerulopathy Truncal obesity Microphakia Low anterior hairline Short metatarsal Pancreatitis Mutism Leukopenia Widely spaced teeth Sandal gap Accelerated skeletal maturation Narrow palpebral fissure Absence seizures Abnormality of epiphysis morphology Malnutrition Hyperammonemia Systemic lupus erythematosus Glomerulonephritis Abnormality of the coagulation cascade Thick lower lip vermilion Status epilepticus Eczema Specific learning disability Short metacarpal Nystagmus Facial hypertrichosis Cone-shaped epiphysis Cutaneous photosensitivity Cerebral cortical atrophy Gliosis Upslanted palpebral fissure Neuronal loss in central nervous system Peripheral demyelination Optic atrophy Cerebral calcification Sloping forehead Visual impairment Insulin resistance Retrognathia Joint contracture of the hand Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Osteopetrosis Abnormality of the ear Rocker bottom foot Congenital muscular dystrophy Micropenis Neonatal hypotonia Posterior synechiae of the anterior chamber Bilateral cryptorchidism Posterior uveitis Hyperglycinuria Anteverted ears Abnormal pupil morphology Retinal coloboma Enlarged cisterna magna External genital hypoplasia Cortical dysplasia Spastic diplegia Cerebral palsy Coloboma Cerebral visual impairment Progressive muscle weakness Postnatal microcephaly Pachygyria Hypertrichosis Muscular dystrophy Tetraplegia Microcornea Polymicrogyria Joint hypermobility Overfolded helix Absent eyebrow Pulmonary lymphangiectasia Tented upper lip vermilion Self-mutilation Narrow nose Abnormality of the periventricular white matter Restlessness Long nose Bilateral talipes equinovarus Abnormality of dental morphology Dermal atrophy Relative macrocephaly Oligodontia Broad hallux phalanx Microretrognathia Dental crowding Broad thumb Thin skin Hemiparesis Respiratory insufficiency Febrile seizures Nail dysplasia Vomiting Short columella Conical tooth Sleep disturbance Narrow maxilla Polydactyly Pericardial lymphangiectasia Pneumonia Constipation Patent ductus arteriosus Short nose Anemia Narrow jaw Conspicuously happy disposition Knee flexion contracture Cleft soft palate Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Generalized osteoporosis Ectodermal dysplasia Downturned corners of mouth Aphasia Broad columella Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Eclabion Wide nasal base Enlarged joints Prominent proximal interphalangeal joints Broad philtrum Abnormality of the testis Abnormal hair pattern Echolalia Abnormality of finger Epileptic spasms Protruding tongue Narrow nasal bridge Dysphasia Unilateral narrow palpebral fissure Aminoaciduria Bulbous nose Anxiety Long face Arachnodactyly Talipes Facial asymmetry Abnormality of the foot Renal insufficiency Thrombocytopenia Attention deficit hyperactivity disorder Acidosis Thin upper lip vermilion Cleft palate Hyperactivity Stage 5 chronic kidney disease Nausea Cirrhosis Metabolic acidosis Coma Postural instability Abnormal bleeding Increased serum lactate Aciduria Anterior beaking of thoracic vertebrae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Azoospermia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more