Intellectual disability, severe, and Platyspondyly

Diseases related with Intellectual disability, severe and Platyspondyly

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

Top matches:

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

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

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Other less relevant matches:

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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA 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

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

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

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

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
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Kyphosis Inguinal hernia Hearing impairment Hernia Ventriculomegaly Hypoplasia of the corpus callosum Abnormality of the skeletal system Recurrent infections Nystagmus Short neck Dilatation Abnormal facial shape Strabismus Frontal bossing Severe short stature Hip dysplasia Umbilical hernia Flexion contracture Intellectual disability, mild Talipes equinovarus Myopia Ataxia Hepatomegaly Mental deterioration Hydronephrosis Recurrent respiratory infections Long philtrum Delayed skeletal maturation Growth delay Gastroesophageal reflux Cognitive impairment Low anterior hairline Hydrocephalus Cerebral atrophy Prominent forehead Skeletal dysplasia Coarse facial features Joint laxity Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Macrotia Psychosis Spondylolysis Vacuolated lymphocytes Spondylolisthesis Beaking of vertebral bodies Dysostosis multiplex Thickened calvaria Pathologic fracture Widely spaced teeth Gingival overgrowth Hypertrichosis Chronic diarrhea Progressive neurologic deterioration Gliosis Pain Macroglossia Cleft palate Erythema Developmental regression Cryptorchidism Feeding difficulties Hepatosplenomegaly High forehead Gait ataxia Narrow palate Cerebral cortical atrophy Intrauterine growth retardation Immunodeficiency Oligosacchariduria High palate Synostosis of joints Talipes Thick hair Exostoses Dislocated radial head Failure to thrive Abnormality of the kidney Camptodactyly Blue sclerae Respiratory tract infection Specific learning disability Camptodactyly of finger Convex nasal ridge Corneal opacity High, narrow palate Skeletal muscle atrophy Joint hypermobility Long face Genu valgum Narrow chest Hip dislocation Pectus carinatum Scarring Recurrent bacterial infections Osteopenia Pectus excavatum Cerebellar hypoplasia Optic atrophy Wide intermamillary distance Hypertelorism Agenesis of corpus callosum Sleep apnea Femoral bowing Thick lower lip vermilion Confusion Small epiphyses Brachycephaly Irregular vertebral endplates Congestive heart failure Midface retrusion Severe global developmental delay Abnormality of the pinna Spasticity Brain atrophy Otitis media Redundant skin Wide nose Metaphyseal irregularity High myopia Hirsutism Epidermal acanthosis Cataract Synophrys Delayed speech and language development Hyperreflexia Splenomegaly Motor delay Behavioral abnormality Diarrhea Epicanthus Gait disturbance Deep plantar creases Abnormal anterior chamber morphology Short toe Decreased body weight Broad alveolar ridges Heterotopia Intellectual disability, profound Interphalangeal joint contracture of finger Atrophy of the spinal cord Elbow flexion contracture Accessory oral frenulum Congenital diaphragmatic hernia Ulnar deviation of the wrist Narrow forehead Facial hemangioma Dandy-Walker malformation Bradycardia Abnormality of the pancreas Deep palmar crease Supernumerary nipple Severe intrauterine growth retardation Thoracolumbar scoliosis Nevus flammeus Underdeveloped supraorbital ridges Prominent metopic ridge Ulnar deviation of finger Biparietal narrowing Broad palm Short thorax Overlapping toe Severe failure to thrive Capillary hemangioma Nephroblastoma Elbow dislocation Trigonocephaly CNS hypomyelination Hemangioma Sacral dimple Abnormality of the optic nerve Joint dislocation Hypoplasia of the brainstem Visual loss Intestinal malrotation Corneal scarring Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormality of the upper urinary tract Unilateral chest hypoplasia Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Ichthyosis follicularis Bulbous nose Limitation of joint mobility Cleft lip Vesicoureteral reflux Nevus Full cheeks Nevus flammeus of the forehead Tapered finger Short foot Everted lower lip vermilion Oral cleft Cleft upper lip Retinopathy Apnea Muscular hypotonia of the trunk Neoplasm Retrognathia Polyhydramnios Proptosis Upslanted palpebral fissure Posteriorly rotated ears Abnormality of cardiovascular system morphology Syndactyly Atrial septal defect Ventricular septal defect Wide nasal bridge Low-set ears Micrognathia Mesomelic/rhizomelic limb shortening Abnormality of the dentition Facial capillary hemangioma Cranial hyperostosis Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Thoracolumbar kyphosis Antineutrophil antibody positivity Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Hydrocele testis Impaired smooth pursuit Delusions Patellar dislocation Abnormality of joint mobility Abnormality of dental structure Aseptic necrosis Schizencephaly Heberden's node Knee osteoarthritis Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Arthropathy Osteoarthritis Joint stiffness Pneumonia Cerebellar agenesis Vertebral compression fractures Progressive joint destruction Hypoplasia of the pons Thin ribs Increased susceptibility to fractures Arnold-Chiari malformation Recurrent fractures Autism Small nail Clinodactyly Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Severe sensorineural hearing impairment Limb dystonia Hyperechogenic pancreas Mandibular prognathia Retinal degeneration Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Broad forehead Anxiety Arthritis Kyphoscoliosis Babinski sign Highly arched eyebrow Areflexia Depressivity Malar flattening Absent eyelashes Cerebellar atrophy Myopathy Macrocephaly Dysarthria Muscle weakness Sensorineural hearing impairment Delayed peripheral myelination Thick eyebrow Neurodegeneration Bronchitis Hallucinations Abnormality of the sternum Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Spastic gait Limb ataxia Progressive cerebellar ataxia Amblyopia Tall stature Bowing of the long bones Depressed nasal ridge Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Decreased antibody level in blood Dental malocclusion Delayed myelination Abnormal eyelid morphology Hydroureter Abnormal eyelash morphology Short palm Dental crowding Large fontanelles Abnormality of the face Recurrent urinary tract infections Cholestasis Hepatitis Cerebral calcification Respiratory failure Craniosynostosis Bruising susceptibility Micromelia Coxa valga Joint hyperflexibility Generalized-onset seizure Dolichocephaly Lumbar hyperlordosis Jaundice Pes planus Pulmonary arterial hypertension Rhizomelia Osteoporosis Exotropia Narrow face Wormian bones Renal insufficiency Short humerus Esophagitis Down-sloping shoulders Atypical scarring of skin Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Posterior scalloping of vertebral bodies Short clavicles Acute kidney injury Small basal ganglia Coxa vara Osteomalacia Orthostatic hypotension Limited elbow extension Delayed cranial suture closure Rickets Bilateral ptosis Poor suck Hyperextensible skin Coarse hair Cutis laxa Osteolysis Wide anterior fontanel Acanthosis nigricans Premature skin wrinkling Overgrowth Emotional lability Acne Aplasia/Hypoplasia of the mandible Intellectual disability, progressive Hoarse voice Aspiration Hydrops fetalis Enlarged cerebellum Involuntary movements Mitral regurgitation Neuronal loss in central nervous system Muscle fibrillation Generalized myoclonic seizures Ascites Neutropenia Nyctalopia Wide mouth Anteverted nares Cardiomyopathy Edema Blindness Hyperactivity Myoclonus Fibular bowing Metaphyseal chondrodysplasia Dysphagia Angiokeratoma Downslanted palpebral fissures Brachydactyly Thoracic hypoplasia Mesomelia Ptosis Aspartylglucosaminuria Angiofibromas Tibial bowing Angiokeratoma corporis diffusum Methemoglobinemia Cranial asymmetry Palpebral edema Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Abnormality of the clavicle Visceromegaly Abnormality of the ovary Megalencephaly Broad face Macroorchidism Central apnea Cloverleaf skull Hypothermia Abnormality of the wrist Blepharitis Choanal atresia Hemivertebrae Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Abnormality of the ribs Conjunctivitis Oligohydramnios Eczema Postaxial hand polydactyly Nail dysplasia Ectodermal dysplasia Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Dry skin Flat face Abnormality of dental enamel Hypotrichosis Mixed hearing impairment Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Abnormality of metabolism/homeostasis Opacification of the corneal stroma Absent eyebrow Keratitis Intestinal obstruction Bifid scrotum Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Plagiocephaly Astigmatism Nail dystrophy Generalized joint laxity Absent tibia Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Large iliac wings Broad clavicles Long neck Long fibula Abnormality of the sense of smell Persistent open anterior fontanelle Keloids Gastroparesis Aplastic clavicle Metaphyseal striations Femoral hernia Venous insufficiency Bladder diverticulum Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Broad ribs Limited knee extension Ureteral obstruction Papule Flared metaphysis Thick vermilion border Abnormality of the skin Low posterior hairline Photophobia Infantile muscular hypotonia Hyperkeratosis Polydactyly Hyperhidrosis Dementia Spondyloepiphyseal dysplasia Alopecia Abnormality of esophagus physiology Microphthalmia Short femoral neck Respiratory distress Flat acetabular roof Spondyloepimetaphyseal dysplasia Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Humerus varus Carotid artery tortuosity Aortic rupture Schmorl's node


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