Cognitive impairment, and Pectus excavatum

Diseases related with Cognitive impairment and Pectus excavatum

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


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match WAARDENBURG SYNDROME, TYPE 2E; WS2E


Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

Mendelian

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

Learn more

Other less relevant matches:

Medium match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

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 AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Dilatation Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Hypertelorism Cryptorchidism Cleft palate Scoliosis Seizures Ptosis Low-set ears Short stature Atrial septal defect Muscular hypotonia Macrocephaly Downslanted palpebral fissures Ventricular septal defect Anteverted nares Long face Growth delay Autism Strabismus Abnormality of the dentition Narrow face Frontal bossing Brachycephaly Talipes equinovarus Attention deficit hyperactivity disorder Flexion contracture Feeding difficulties

Rare Symptoms - Less than 30% cases


High forehead Thin upper lip vermilion Neonatal hypotonia Behavioral abnormality Delayed eruption of teeth Unsteady gait Telecanthus Muscular hypotonia of the trunk Joint hyperflexibility Agenesis of corpus callosum Pes planus Hypertonia Wide nasal bridge Hyperpigmentation of the skin Macroorchidism Ataxia Hearing impairment Hypoplasia of the maxilla Round face Aggressive behavior Nasal speech Joint laxity Protruding ear Neurological speech impairment Midface retrusion Slender finger Open mouth Kyphoscoliosis Disproportionate tall stature Hyperactivity Broad palm Hyperextensibility of the finger joints Micrognathia Talipes Microcephaly Failure to thrive Dysarthria Ventriculomegaly Respiratory insufficiency Dental crowding Broad-based gait Ascending tubular aorta aneurysm Postural instability Camptodactyly of finger Arachnodactyly Abnormal facial shape Pectus carinatum Patent ductus arteriosus Hyporeflexia Short philtrum Gowers sign Facial asymmetry Intellectual disability, moderate Mandibular prognathia Absent speech Webbed neck Mitral valve prolapse Deep philtrum Skeletal muscle atrophy Prominent nasal bridge Motor delay Oppositional defiant disorder Muscle weakness Proximal muscle weakness Congenital posterior urethral valve Long palm Focal motor seizures Dilatation of the bladder Narrow palm Aplasia of the abdominal wall musculature Fetal ascites Short neck Asymmetry of the ears Urethral obstruction Megacystis Abnormality of the bladder Prune belly Aplasia of the musculature Congestive heart failure Abdominal wall defect Long philtrum Abnormality of cardiovascular system morphology Inguinal hernia Clinodactyly of the 5th finger Umbilical hernia Long hallux Narrow mouth Delayed speech and language development Decreased muscle mass Thick lower lip vermilion Intellectual disability, profound High myopia Wide intermamillary distance Bifid uvula Generalized myoclonic seizures Recurrent fractures Spontaneous abortion High, narrow palate Bulbous nose Sparse eyebrow Smooth philtrum Myopia Long fingers Abnormality of movement Synophrys Epileptic spasms Abnormality of the pinna Camptodactyly Difficulty walking Slender build Small earlobe Osteoporosis Myoclonus Gait disturbance Tall stature Abnormality of the cervical spine Low-set, posteriorly rotated ears Wide mouth Hyperkinesis Sinusitis Heterotopia Overgrowth Otitis media Thick vermilion border Joint hypermobility Autistic behavior Premature ovarian insufficiency Anxiety Coarse facial features Gastroesophageal reflux Macrotia Cerebral cortical atrophy Depressivity Obesity Intellectual disability, severe Relative macrocephaly Chronic otitis media Cat cry Abnormal head movements Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Encopresis Periventricular gray matter heterotopia Shyness Self-injurious behavior Irregular dentition Mood swings Enuresis Large forehead Poor eye contact Polyphagia Abnormality of neuronal migration Large hands Abnormally folded helix Low frustration tolerance Broad forehead Shawl scrotum Abnormal vertebral segmentation and fusion Urethral stenosis High anterior hairline Genu recurvatum Broad foot External ear malformation Megalocornea Hyperextensible skin Intrauterine growth retardation Single transverse palmar crease Short foot Everted lower lip vermilion Small hand Short palm Oral cleft Cleft upper lip Finger syndactyly Brachydactyly Intellectual disability, mild Velopharyngeal insufficiency Aortic aneurysm Impaired social interactions Abnormality of the rib cage Aortic root aneurysm Narrow nasal bridge Long nose Emotional lability Obsessive-compulsive behavior Abnormality of the voice Prominent forehead Schizophrenia Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Hallucinations Anorexia Broad thumb Psychosis Cervical ribs Hydronephrosis Urogenital sinus anomaly Aganglionic megacolon Premature graying of hair Albinism Congenital sensorineural hearing impairment CNS hypomyelination Anosmia Hypopigmented skin patches Cafe-au-lait spot Bilateral sensorineural hearing impairment Hypoplasia of the iris Hypopigmentation of the skin Abnormality of the nervous system Visual impairment Sensorineural hearing impairment Nystagmus Dysplastic pulmonary valve Atrial septal dilatation Juvenile myelomonocytic leukemia Severe sensorineural hearing impairment Ocular albinism Myeloproliferative disorder Hypoplasia of the semicircular canal Vomiting Hypoplasia of the corpus callosum Respiratory distress Optic atrophy Anemia Dilated vestibule of the inner ear Aplasia of the semicircular canal White eyebrow Blue irides White eyelashes Cerebral hypomyelination Hypopigmentation of the fundus White forelock White hair Generalized hypopigmentation Misalignment of teeth Heterochromia iridis Hypoplastic nasal bridge Sagittal craniosynostosis Cerebral atrophy Waddling gait Skeletal muscle hypertrophy Limb-girdle muscular dystrophy Infantile muscular hypotonia Reduced tendon reflexes Scapular winging Frequent falls Lumbar hyperlordosis Tachycardia Generalized amyotrophy Falls Dilated cardiomyopathy Muscular dystrophy Hyperlordosis Myalgia Pes cavus Elevated serum creatine phosphokinase Hydrocephalus Calf muscle hypertrophy Spinal rigidity Scaphocephaly Posteriorly rotated ears Cystic hygroma Pterygium Pulmonic stenosis Dolichocephaly Leukemia Craniosynostosis Hypertrophic cardiomyopathy Polyhydramnios Short nose Motor deterioration Reduced muscle fiber merosin Muscle fiber hypertrophy Moderately reduced ejection fraction Fatty replacement of skeletal muscle Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Neck flexor weakness Wolff-Parkinson-White syndrome Dystonia Acidosis Intestinal atresia Anal atresia Tetralogy of Fallot Decreased testicular size Abnormality of the skin Intestinal malrotation Vesicoureteral reflux Abdominal distention Ascites Hip dislocation Abnormality of the ribs Recurrent respiratory infections Constipation Abnormal heart morphology Renal insufficiency Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Malignant hyperthermia Ankle contracture Oligohydramnios Epistaxis Congenital contracture Decreased fertility Miosis Volvulus Abnormality of the uterus 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Abnormality of the ureter Vertebral segmentation defect Recurrent urinary tract infections Hydroureter Bilateral cryptorchidism Abnormality of the urinary system Cutis laxa Multicystic kidney dysplasia Hemivertebrae Congenital hip dislocation Telangiectasia Myopathic facies Tented upper lip vermilion Severe global developmental delay Progressive neurologic deterioration Corpus callosum atrophy Poor coordination Lipoma Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Trigonocephaly Tetraparesis Poor fine motor coordination Spastic tetraplegia Increased serum lactate Coma Metabolic acidosis Hemolytic anemia Lactic acidosis Abnormality of eye movement Spastic paraplegia Severe lactic acidosis Increased serum pyruvate Short palpebral fissure Areflexia Narrow forehead Generalized muscle weakness Downturned corners of mouth Abnormality of the foot Arthrogryposis multiplex congenita Blepharophimosis Facial palsy Conductive hearing impairment Kyphosis Hyperalaninemia Myopathy Abnormality of the skeletal system Fever Poor gross motor coordination Projectile vomiting Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Severe temper tantrums



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Type II diabetes mellitus, related diseases and genetic alterations Myopia and Proximal muscle weakness, related diseases and genetic alterations Epicanthus and Bifid uvula, related diseases and genetic alterations Cardiomyopathy and Nephrotic syndrome, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more