Cognitive impairment, and Hip dysplasia

Diseases related with Cognitive impairment and Hip dysplasia

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


Top matches:

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Medium match GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME


Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

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Other less relevant matches:

Medium match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Medium match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


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

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Medium match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hip dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Hearing impairment Scoliosis Seizures Global developmental delay Inguinal hernia Macrocephaly Ventriculomegaly Hydrocephalus Microcephaly Poor speech Delayed speech and language development Macrotia High palate Flexion contracture Abnormality of cardiovascular system morphology Hepatosplenomegaly Talipes equinovarus Kyphosis Long philtrum Spastic tetraplegia Hernia Splenomegaly Thin upper lip vermilion Tetraplegia Broad forehead Vesicoureteral reflux Epicanthus Overfolded helix Cardiomyopathy Edema Recurrent upper respiratory tract infections Abnormality of the foot Genu valgum Joint laxity Muscular hypotonia Dysarthria Anteverted nares Spasticity Failure to thrive Downslanted palpebral fissures Hypertelorism Ataxia Wide nasal bridge Prominent forehead Cryptorchidism Low-set ears Hypertension Dysmetria Unsteady gait Joint hypermobility

Rare Symptoms - Less than 30% cases


Hypothyroidism Coarse facial features Delayed skeletal maturation Glaucoma Umbilical hernia Respiratory distress Hepatomegaly Depressed nasal bridge Facial asymmetry Craniosynostosis Joint hyperflexibility Sparse eyebrow Abnormality of the urinary system Sparse scalp hair Short nose Cone-shaped epiphysis Retinopathy Hydronephrosis Polydactyly Hyperactivity Upslanted palpebral fissure Frontal bossing Hypoplasia of the corpus callosum Hypertonia Dilatation Short neck Joint stiffness Ptosis Conductive hearing impairment Low-set, posteriorly rotated ears Protruding ear Sparse hair Bulbous nose Bilateral single transverse palmar creases Joint dislocation Deep philtrum Strabismus Atrial septal defect Cleft palate Pectus excavatum High forehead Feeding difficulties in infancy Hypermetropia Pulmonic stenosis Wide intermamillary distance Bicuspid aortic valve Failure to thrive in infancy Prominent fingertip pads Abnormality of the dentition Growth delay Corneal opacity Prominent sternum Hirsutism Macroglossia Lumbar hyperlordosis Aortic valve stenosis Opacification of the corneal stroma Abnormal heart valve morphology Thoracic kyphosis Dysostosis multiplex Broad ribs Dermatan sulfate excretion in urine Spinal cord compression Polyhydramnios Intellectual disability, moderate Postnatal growth retardation Pectus carinatum Thick eyebrow Ascites Webbed neck Hydrops fetalis Widely spaced teeth Pleural effusion Intrauterine growth retardation Hypoplasia of the odontoid process Difficulty walking Apraxia Myopathy Anxiety Gait disturbance Nystagmus Optic atrophy Tremor Cerebellar atrophy Gait ataxia Neurodegeneration Depressivity Inability to walk Sandal gap Broad-based gait Arachnodactyly Hyperreflexia Feeding difficulties Pes planus Areflexia Peripheral neuropathy Status epilepticus Leukemia Bruising susceptibility Falls Astigmatism Syndactyly Delayed puberty Respiratory insufficiency Cerebellar hypoplasia Gastroesophageal reflux Posteriorly rotated ears Osteoporosis Thrombocytopenia Deeply set eye Osteopenia Thick vermilion border Triangular face Highly arched eyebrow Low posterior hairline Vasculitis Lymphedema Cafe-au-lait spot Hyperpigmentation of the skin Mitral regurgitation Fine hair Epistaxis Redundant skin in infancy Brachydactyly Cyanosis Myopia Esotropia Lymphoma Abnormal bleeding EEG abnormality Scapular exostoses Multiple long-bone exostoses Bone pain Cerebral visual impairment Abnormal palate morphology Scapular winging Abnormal cerebellum morphology Generalized-onset seizure Gynecomastia Exotropia Redundant skin Recurrent urinary tract infections Stroke Growth hormone deficiency Ectodermal dysplasia Nevus Narrow forehead Finger syndactyly Infantile muscular hypotonia Preaxial polydactyly Talipes Brisk reflexes Rib exostoses Persistent cloaca Mild postnatal growth retardation Muscle weakness Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Multiple exostoses Increased number of teeth Thick nasal alae Vaginal atresia Avascular necrosis of the capital femoral epiphysis Oligospermia Fragile nails Cone-shaped epiphyses of the phalanges of the hand Exostoses Prune belly Lewy bodies Torticollis Abnormality of the genital system Pyloric stenosis Nasal speech Laryngomalacia Abnormality of the genitourinary system Sacral dimple Narrow palpebral fissure Narrow palate Heterotopia Open mouth Elbow dislocation Hypotelorism Eczema Focal-onset seizure Otitis media Underdeveloped nasal alae Everted lower lip vermilion Small hand High, narrow palate Aortic aneurysm Impulsivity Cleft upper lip Chronic infection Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Multifocal epileptiform discharges Expressive language delay Anteverted ears Cortical dysplasia Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Prominent metopic ridge Slender finger Abnormality of the sternum Vertebral fusion Long fingers Long face Oral cleft Anterior beaking of lower thoracic vertebrae Hydrocele testis Pulmonary lymphangiectasia Monocytosis Broad toe Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Facial hypotonia Abnormality of the mediastinum Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Cubitus valgus Abnormality of the thorax Bilateral ptosis Visual impairment Cholelithiasis Arteritis Reduced factor IX activity Dry skin Abnormal heart morphology Hip dislocation Small for gestational age Prominent nasal bridge Abnormal cardiac septum morphology Scarring Blepharophimosis Pallor Cleft lip Hypospadias Hypoplasia of olfactory tract Absent speech Vomiting Ventricular septal defect Cataract Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Poor suck Snoring Proximal tapering of metacarpals Pigmentary retinopathy Cutis marmorata Obsessive-compulsive behavior Abnormality of eye movement Lower limb muscle weakness Confusion Aplasia/Hypoplasia of the corpus callosum Short chin Renal hypoplasia Overgrowth Syringomyelia Urinary incontinence Paresthesia Polymicrogyria Thin vermilion border Coma Attention deficit hyperactivity disorder Progressive cerebellar ataxia Parkinsonism Absent septum pellucidum Arnold-Chiari type I malformation Narrow mouth Mental deterioration Dementia Myoclonus Cerebral cortical atrophy Weight loss Rigidity Intellectual disability, severe Aggressive behavior Abnormality of the eye Paralysis Narrow nose Limb muscle weakness Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Jaundice Gliosis Hyporeflexia Clinodactyly of the 5th finger Reduced number of teeth Abnormality of dental enamel Narrow face Emotional lability Convex nasal ridge Athetosis Alzheimer disease Global brain atrophy Aphasia Akinesia Neurofibrillary tangles Insomnia Micrognathia Impaired smooth pursuit Cerebral amyloid angiopathy Perseveration Dysesthesia Supranuclear gaze palsy Cachexia Prematurely aged appearance Brain atrophy Limb ataxia Memory impairment Agenesis of corpus callosum Bradykinesia Abnormality of extrapyramidal motor function Psychosis Clumsiness Involuntary movements Chronic diarrhea Hallucinations Mild global developmental delay Truncal ataxia Muscle stiffness Mutism Hyperkinesis Slurred speech Apathy Personality changes Absent earlobe Abnormality of earlobe Apnea Visual loss Decreased pulmonary function Hyperlordosis Gingival overgrowth Hypertrichosis Peripheral axonal neuropathy Sensory neuropathy Vertigo Platyspondyly Joint contracture of the hand Respiratory tract infection Poor head control Arthrogryposis multiplex congenita Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Abnormality of the nervous system Skeletal dysplasia Kyphoscoliosis Impaired vibratory sensation Dyspnea Mandibular prognathia Cardiac arrest Pterygium Arrhythmia Thoracolumbar kyphosis Anterior beaking of lumbar vertebrae Pseudoarthrosis Hypomimic face Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Acetabular dysplasia Pulmonary insufficiency Distal muscle weakness Recurrent ear infections Nonimmune hydrops fetalis Thoracolumbar scoliosis Camptodactyly Hyperactive deep tendon reflexes Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Severe short stature Recurrent infections Dolichocephaly Dysphagia Spinal canal stenosis Impaired tactile sensation Metaphyseal irregularity Metaphyseal widening Epiphyseal dysplasia Sleep apnea Spastic tetraparesis Accelerated skeletal maturation Blindness Sensory ataxia Thickened skin Decreased body weight Split hand Progressive neurologic deterioration Tetraparesis Waddling gait Diarrhea Encephalopathy Aseptic necrosis Impaired proprioception Intellectual disability, mild Cervical myelopathy Sensory axonal neuropathy Myopathic facies Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Long nose Cervical cord compression Cervical instability Narrow nasal bridge Obstructive sleep apnea Retinal fold Myelopathy Constrictive median neuropathy Flared iliac wings Delayed ability to walk Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Distal arthrogryposis Hypotrophy of the small hand muscles



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