Cognitive impairment, and Narrow mouth

Diseases related with Cognitive impairment and Narrow mouth

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


Top matches:

Medium match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

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Other less relevant matches:

Medium 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

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 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 SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Medium match WIEDEMANN-STEINER SYNDROME


Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Medium match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Top 5 symptoms//phenotypes associated to Cognitive impairment and Narrow mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Narrow mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Short stature Wide nose Hypertelorism Wide nasal bridge Depressed nasal bridge Intellectual disability, mild Downslanted palpebral fissures Failure to thrive Hypertonia Feeding difficulties Growth delay Microcephaly Edema Broad forehead Hyperactivity Camptodactyly Highly arched eyebrow Strabismus Osteoporosis Cryptorchidism Blepharophimosis Muscular hypotonia Narrow nose Pectus excavatum Synophrys Clinodactyly Facial asymmetry Bifid uvula Webbed neck Hypoplasia of the corpus callosum Short nose Prominent forehead Thin upper lip vermilion Scoliosis Intrauterine growth retardation Thin vermilion border Micrognathia Retrognathia Talipes equinovarus Motor delay Dysarthria Flexion contracture Ptosis Respiratory insufficiency Kyphosis

Rare Symptoms - Less than 30% cases


Nasal speech Hypohidrosis Infantile muscular hypotonia Depressed nasal ridge Thick lower lip vermilion Generalized myoclonic seizures Delayed skeletal maturation Hyperhidrosis Broad nasal tip Bulbous nose Unsteady gait Dyspnea Accelerated skeletal maturation Large forehead Anxiety Deeply set eye Attention deficit hyperactivity disorder Microtia Sudden cardiac death Upslanted palpebral fissure Full cheeks Intellectual disability, severe Epicanthus Radial deviation of finger Hernia Sparse eyebrow Round face Tapered finger Dilatation Limitation of joint mobility Dolichocephaly Finger clinodactyly Cleft palate Postnatal growth retardation Aggressive behavior Frontal bossing Gastroesophageal reflux Short philtrum Disproportionate tall stature Broad-based gait Wide intermamillary distance Large face Bilateral ptosis Malar flattening Small for gestational age Long fingers Smooth philtrum Jaundice Malignant hyperthermia Polyhydramnios Short palm Flat face Abnormality of the pinna Neonatal hypotonia Brachycephaly Mandibular prognathia Constipation Long face Kyphoscoliosis Difficulty walking Macrocephaly Protruding ear Intellectual disability, moderate Facial palsy Feeding difficulties in infancy Ventricular septal defect Narrow palpebral fissure Psychomotor deterioration Abnormal corpus callosum morphology Broad philtrum Short attention span Abnormality of the elbow Depressed nasal tip Short toe Abnormality of the hand Generalized hirsutism Sacral dimple Narrow nasal bridge Short middle phalanx of finger Delayed gross motor development Ophthalmoplegia Rhizomelia Villous atrophy Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Woolly hair Increased serum iron Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Hypergalactosemia Renal cortical microcysts Stereotypy Macrotia Long eyelashes Hypertrichosis Short palpebral fissure Growth hormone deficiency Hirsutism Thick eyebrow Severe global developmental delay Neurological speech impairment High forehead Hypermethioninemia Clinodactyly of the 5th finger Behavioral abnormality Dysphagia Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Telecanthus Short distal phalanx of finger Anteverted ears Renal insufficiency Cyanosis Underdeveloped nasal alae Falls Carious teeth Irritability Apnea Pes planus Hyporeflexia Respiratory distress Generalized-onset seizure Short neck Fever Spasticity Pain Increased serum insulin-like growth factor 1 Burkitt lymphoma Hypoplastic facial bones Prominent scalp veins Dehydration Interphalangeal joint contracture of finger Broad finger Central apnea Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Trismus Recurrent urinary tract infections Episodic fever Acute kidney injury Limited elbow extension Opisthotonus Overlapping toe Keratitis Adducted thumb Elbow flexion contracture Rieger anomaly Esodeviation Asymmetry of the thorax Diabetes mellitus Triangular face Delayed eruption of teeth Short foot Everted lower lip vermilion Small hand Inability to walk Aortic regurgitation Muscular hypotonia of the trunk Severe short stature Type II diabetes mellitus Obesity Elbow hypertrichosis Dilatation of renal calices Hyperextensibility at elbow Aplasia/Hypoplasia of the ribs Small forehead Congenital, generalized hypertrichosis Low frustration tolerance Lymphoma Epidermal acanthosis Perimembranous ventricular septal defect Delayed cranial suture closure Abnormality of the rib cage Small face Maternal diabetes Severe failure to thrive Severe intrauterine growth retardation Multiple cafe-au-lait spots Reduced subcutaneous adipose tissue Truncal obesity High pitched voice Blue sclerae Agitation Lipodystrophy Patent foramen ovale Pterygium Acanthosis nigricans Sandal gap Cafe-au-lait spot Decreased body weight Sparse scalp hair Leukopenia Partial absence of the septum pellucidum Abnormality of the hair Mesiodens Areflexia Pes cavus Hearing impairment Segmental myoclonic seizures Hypoplastic hippocampus Hippocampal atrophy Short ear Narrow nasal tip Syndactyly Poor motor coordination Abnormal social behavior Nonprogressive cerebellar ataxia Positive Romberg sign Impaired social interactions Abnormal cortical gyration Palpebral edema Congestive heart failure Myopathy Pointed chin Pericardial lymphangiectasia Prominent nasal bridge Pectus carinatum Myoclonus Absent speech Gait disturbance Myopia Skeletal muscle atrophy Pulmonary lymphangiectasia Cardiomyopathy Irregular dentition Erysipelas Intestinal lymphangiectasia Hypoproteinemia Lymphopenia Lymphedema Decreased antibody level in blood Brisk reflexes Intention tremor Abnormality of movement EMG: myopathic abnormalities Exertional dyspnea Difficulty climbing stairs Generalized amyotrophy Ophthalmoparesis Gowers sign Congenital contracture Dysphonia External ophthalmoplegia Centrally nucleated skeletal muscle fibers Respiratory insufficiency due to muscle weakness Scapular winging Progressive muscle weakness Left ventricular hypertrophy Waddling gait Distal muscle weakness Generalized muscle weakness Abnormal heart valve morphology Hip contracture Memory impairment Tremor Dysmetria Abnormal pyramidal sign Autistic behavior Gait ataxia Cerebral cortical atrophy Cerebellar hypoplasia Cerebellar atrophy Proximal muscle weakness Difficulty running Nystagmus Ataxia Hyperlordosis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Axial muscle weakness Type 1 muscle fiber predominance Facial diplegia Muscle weakness Arachnodactyly Hepatic fibrosis Metopic synostosis Immunodeficiency Diarrhea Hepatomegaly Anemia Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Broad face Abnormal heart morphology Arachnoid cyst Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Cutis marmorata Obsessive-compulsive behavior Overfolded helix Thrombocytopenia Proptosis Aplasia/Hypoplasia of the corpus callosum Hepatic failure Chronic diarrhea Fine hair Pancytopenia Tetralogy of Fallot Aciduria Premature birth Sepsis Cirrhosis Elevated hepatic transaminase Dry skin Delayed puberty Pulmonic stenosis Sparse hair Abnormality of the liver Wide mouth Respiratory tract infection Abnormality of the urinary system Short chin High, narrow palate Spontaneous abortion Long hallux Small earlobe Hyperextensibility of the finger joints Slender build Epileptic spasms Slender finger Decreased muscle mass Narrow face Focal motor seizures Hyperpigmentation of the skin Dental crowding Tall stature Intellectual disability, profound High myopia Postural instability Recurrent fractures Narrow palm Long palm Renal hypoplasia Retinopathy Pigmentary retinopathy Overgrowth Hip dysplasia Urinary incontinence Vesicoureteral reflux Polymicrogyria Camptodactyly of finger Craniosynostosis Asymmetry of the ears Hydronephrosis Polydactyly Agenesis of corpus callosum Inguinal hernia Hydrocephalus Ventriculomegaly Abnormality of the skeletal system Hypertension Cold-induced sweating



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