Cognitive impairment, and Pectus carinatum

Diseases related with Cognitive impairment and Pectus carinatum

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 43


Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Related symptoms:

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 43

Medium match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53


Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

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Other less relevant matches:

Medium match EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME


Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

Medium match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Pectus carinatum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Pectus carinatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Low-set ears Abnormal facial shape Hypertelorism Webbed neck Seizures Failure to thrive Hearing impairment Muscular hypotonia Dilatation Cryptorchidism Pulmonic stenosis Talipes equinovarus Ascites Spasticity Delayed speech and language development Gait disturbance Neurodegeneration Kyphosis Joint hyperflexibility Hernia Inguinal hernia Flexion contracture Short neck Ataxia Intellectual disability, moderate Mandibular prognathia Facial asymmetry

Rare Symptoms - Less than 30% cases


Nasal speech Kyphoscoliosis Dysmetria Respiratory tract infection Splenomegaly Brachycephaly Visual loss Myoclonus High palate Tremor Cleft palate Myopia Hyperreflexia Peripheral neuropathy Ptosis Nystagmus Progressive visual loss Cardiomyopathy Narrow face Decreased fertility Dental crowding Tetralogy of Fallot Broad-based gait Epicanthus Bilateral cryptorchidism Intellectual disability, mild Dysarthria Hypertrophic cardiomyopathy Arrhythmia Sensorineural hearing impairment Cataract Abnormality of movement Hepatomegaly Prominent nasal bridge Short philtrum Patent ductus arteriosus Macrocephaly Dyspnea Skeletal dysplasia Hyperactive deep tendon reflexes Dementia Mild short stature Depressed nasal bridge Gait ataxia Unsteady gait Hyperpigmentation of the skin Hypospadias Short nose Progressive cerebellar ataxia Hydrops fetalis Abnormality of the skeletal system Atrial septal defect Dysostosis multiplex Pes cavus Microcephaly Posteriorly rotated ears Motor delay Coarse facial features Hepatosplenomegaly Abnormality of the nervous system Clonus Corneal opacity Hypertrichosis Sensorimotor neuropathy Paraplegia Spastic paraplegia Difficulty walking Thoracic kyphosis Hypertonia Ventriculomegaly Depressivity Intrauterine growth retardation Wide nasal bridge Abnormality of cardiovascular system morphology Abnormality of the dentition Delayed skeletal maturation Hyperkeratosis Microphthalmia Neonatal hypotonia Behavioral abnormality Low-set, posteriorly rotated ears Six lumbar vertebrae Abnormality of the kidney Delayed puberty Thick vermilion border Triangular face Frontal bossing Downslanted palpebral fissures Growth delay Cleft lip Subvalvular aortic stenosis Macrotia Joint laxity Aggressive behavior Anxiety Attention deficit hyperactivity disorder Small for gestational age Thin upper lip vermilion Oral cleft Abnormality of skin pigmentation Long face Everted lower lip vermilion Tapered finger Single transverse palmar crease Gastroesophageal reflux Prominent nose Clinodactyly Autism Psychosis Pulmonary arterial hypertension Stereotypy Anorexia Aortic valve stenosis Aspiration Hyperactivity Sandal gap Bipolar affective disorder Clinodactyly of the 5th finger Shallow orbits Broad face Horseshoe kidney Pain Nevus Spastic tetraplegia Pleural effusion Pterygium Recurrent upper respiratory tract infections Widely spaced teeth Opacification of the corneal stroma Cardiac arrest Gingival overgrowth Lumbar hyperlordosis Hip dysplasia Metatarsus adductus Macroglossia Tetraplegia Hirsutism Thick eyebrow Vertigo Genu valgum Poor speech Platyspondyly Postnatal growth retardation Spondyloepiphyseal dysplasia Abnormal heart valve morphology Muscular hypotonia of the trunk J-shaped sella turcica Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches Thoracic kyphoscoliosis Hypoplasia of the odontoid process Prominent sternum Acetabular dysplasia Thoracolumbar kyphosis Pulmonary insufficiency Recurrent ear infections Broad ribs Nonimmune hydrops fetalis Thoracolumbar scoliosis Spinal cord compression Hyperlordosis Umbilical hernia Specific learning disability Hyperextensible skin Freckling Atrioventricular canal defect Abnormality of the ear External genital hypoplasia Bundle branch block Melanocytic nevus Abnormality of the voice Myelodysplasia Melanoma Neuroblastoma Spina bifida occulta Scapular winging Cafe-au-lait spot Left ventricular hypertrophy Subcutaneous nodule Abnormality of the face Abnormality of the genital system Myocardial infarction Mitral valve prolapse Multiple cafe-au-lait spots Curly hair Polyhydramnios Excessive wrinkled skin Severe short stature Recurrent infections Edema Hydrocephalus Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Abnormality of the pulmonary artery Severe sensorineural hearing impairment Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Wolff-Parkinson-White syndrome Small earlobe Hypertension Renal insufficiency Anal atresia Hip dislocation Hydronephrosis Recurrent respiratory infections Constipation Abnormal heart morphology Ventricular septal defect Vesicoureteral reflux Head titubation Facial myokymia Gaze-evoked horizontal nystagmus Upper limb spasticity Titubation Myokymia Ankle clonus Abdominal distention Intestinal malrotation Horizontal nystagmus Multicystic kidney dysplasia Xerostomia Abnormality of the ureter Vertebral segmentation defect Hydroureter Abnormality of the urinary system Cutis laxa Hemivertebrae Abnormality of the skin Congenital hip dislocation Telangiectasia Recurrent urinary tract infections Epistaxis Abnormality of the ribs Oligohydramnios Decreased testicular size Myotonia Fasciculations 11 pairs of ribs Distal lower limb muscle weakness Dysphagia Feeding difficulties Distal upper limb muscle weakness Hypometric saccades Cogwheel rigidity Decreased number of large peripheral myelinated nerve fibers Cerebellar vermis atrophy Dolichocephaly Foot dorsiflexor weakness Limb ataxia Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Hyporeflexia Areflexia Prominent forehead Narrow forehead Tetraparesis Abnormality of the auditory canal Intention tremor Pes planus Babinski sign Cerebral atrophy Cerebellar atrophy Optic atrophy Upper limb hypertonia Hyperreflexia in upper limbs Poor suck Impaired proprioception Limb dystonia Cortical dysplasia Impaired vibratory sensation Lower limb spasticity Dystonia Thickened helices Aplasia/Hypoplasia of the lungs Abnormality of the uterus Micrognathia Long palm Osteopenia Blindness Skeletal muscle atrophy Visual impairment Muscle weakness Asymmetry of the ears Focal motor seizures Mental deterioration Narrow palm Long hallux Hyperextensibility of the finger joints Slender build Epileptic spasms Slender finger Long fingers Proteinuria Falls Decreased muscle mass Foam cells Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Cherry red spot of the macula Facial edema Vacuolated lymphocytes Barrel-shaped chest Waddling gait Hand tremor Syringomyelia Epiphyseal stippling Slurred speech Laryngomalacia Choreoathetosis Cardiomegaly Disproportionate tall stature Sparse eyebrow Volvulus Megacystis Aplasia of the musculature Aplasia of the abdominal wall musculature Dilatation of the bladder Congenital posterior urethral valve Fetal ascites Urethral obstruction Abnormality of the bladder Absent speech Prune belly Abdominal wall defect Cervical ribs Urethral stenosis Urogenital sinus anomaly Intestinal atresia Miosis Anteverted nares Osteoporosis Spontaneous abortion Postural instability Tall stature Thick lower lip vermilion Intellectual disability, profound High myopia Wide intermamillary distance Bifid uvula Generalized myoclonic seizures Recurrent fractures Narrow mouth High, narrow palate Bulbous nose Arachnodactyly Smooth philtrum Synophrys Abnormality of the pinna Camptodactyly Anterior beaking of lower thoracic vertebrae



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