Cognitive impairment, and Bifid uvula

Diseases related with Cognitive impairment and Bifid uvula

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Medium match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Medium match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

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Other less relevant matches:

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 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 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION 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 SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Medium match SHPRINTZEN-GOLDBERG SYNDROME


Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Bifid uvula

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Bifid uvula. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Generalized hypotonia Seizures Abnormality of the pinna Anteverted nares Hernia Microcephaly Delayed speech and language development Talipes equinovarus Anemia Frontal bossing Abnormal heart morphology Scoliosis Muscular hypotonia Ptosis Posteriorly rotated ears Dysarthria Narrow mouth Retrognathia Feeding difficulties in infancy Wide mouth Low-set ears Myopia Smooth philtrum Failure to thrive Micrognathia Downslanted palpebral fissures Prominent forehead Hypoplasia of the corpus callosum Low-set, posteriorly rotated ears Wide nasal bridge Umbilical hernia Depressed nasal bridge Cryptorchidism Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Nephropathy Arachnodactyly Pectus carinatum Camptodactyly Mandibular prognathia Brachycephaly Osteoporosis Hepatomegaly Pectus excavatum Absent speech Ventricular septal defect Immunodeficiency High, narrow palate Thrombocytopenia Pes planus Syndactyly Proptosis Apnea Conductive hearing impairment Long fingers Inguinal hernia Pulmonic stenosis Patent ductus arteriosus Atrial septal defect Hydrocephalus Bulbous nose Bipolar affective disorder Echolalia Recurrent infections Gastroesophageal reflux Hypothyroidism Hyperactivity Submucous cleft hard palate Abnormality of cardiovascular system morphology Broad forehead Small for gestational age Growth delay Intrauterine growth retardation Epicanthus Strabismus Dilatation Polydactyly Tetralogy of Fallot Hearing impairment Hypoplasia of the maxilla Dementia Dental malocclusion Slender finger Disproportionate tall stature Infantile muscular hypotonia Nasal speech Arnold-Chiari malformation Trigonocephaly Dental crowding High forehead Long philtrum Anxiety Velopharyngeal insufficiency Aortic regurgitation Intellectual disability, mild Respiratory insufficiency Renal dysplasia Cataract Difficulty walking Neonatal hypotonia Flexion contracture Renal cyst Short neck Wide anterior fontanel Craniosynostosis Depressivity Cleft lip Hepatic fibrosis Feeding difficulties Protruding ear Bowing of the long bones Aortic aneurysm Ectopia lentis Cholestasis Amblyopia Recurrent urinary tract infections Hyperextensible skin Joint contracture of the hand Short phalanx of finger Exotropia Elbow dislocation Narrow palate Metaphyseal widening Aplasia of the middle phalanx of the hand Sparse scalp hair Abnormality of the sternum Thin ribs Unilateral lung agenesis Scarring Stage 5 chronic kidney disease Fragile skin Oral cleft Retinal degeneration Abnormality of skin pigmentation Hammertoe Short distal phalanx of finger Postaxial polydactyly Retinal dystrophy Delayed eruption of teeth Abnormal form of the vertebral bodies Microdontia Narrow forehead Metatarsus adductus Macroglossia Choanal atresia Abnormality of the metaphysis Telecanthus Dolichocephaly Cone-shaped epiphyses of the phalanges of the hand Camptodactyly of finger Thoracic dysplasia Cholangitis Congenital hepatic fibrosis Pancreatic cysts Joint laxity Osteopenia Scaphocephaly Constipation Hypoplasia of the capital femoral epiphysis Pyelonephritis Accessory oral frenulum Respiratory distress Ventriculomegaly Frontal upsweep of hair Absence of renal corticomedullary differentiation Recurrent lower respiratory tract infections Prominent metopic ridge Mitral regurgitation Intestinal malrotation Short ribs Cutis laxa Short proximal phalanx of finger Widely spaced teeth Blue sclerae Cone-shaped epiphysis Interphalangeal joint contracture of finger Mitral valve prolapse Joint hypermobility Acute kidney injury Joint hyperflexibility Genu valgum Short femoral neck Short thorax Abnormality of the foot Narrow chest Nephronophthisis Abnormal retinal morphology Joint stiffness Obstructive sleep apnea Sacral meningocele Apathy Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Psychotic episodes Unilateral renal agenesis Aplasia of the thymus Obsessive-compulsive behavior Psoriasiform dermatitis Axonal loss Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Abnormality of the hand Schizophrenia Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Conotruncal defect Giant platelets Hallucinations Pulmonary artery atresia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the endocrine system Retinal vascular tortuosity Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Paranoia Spina bifida Open mouth Dislocated radial head Aplasia/Hypoplasia of the abdominal wall musculature Minimal subcutaneous fat Hallux varus Cranial asymmetry Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Lateral clavicle hook Dermal translucency Abnormal aortic valve morphology Cloverleaf skull Fever Spondylolisthesis Communicating hydrocephalus Missing ribs Genu recurvatum Microglossia Shallow orbits Congenital conductive hearing impairment Arnold-Chiari type I malformation Right aortic arch with mirror image branching Aortic root aneurysm Anteriorly placed anus C1-C2 vertebral abnormality Intellectual disability, severe Primary amenorrhea Anal atresia Low posterior hairline Psychosis Peripheral demyelination Amenorrhea Specific learning disability Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Hemolytic anemia Dysmetria Arteria lusoria Cerebellar atrophy Central nervous system degeneration Vascular ring Congenital cataract Autoimmunity Blepharophimosis Mental deterioration Aggressive behavior Arthritis Hypospadias Obesity Behavioral abnormality Perineal fistula Abdominal wall muscle weakness Sepsis Skeletal dysplasia Bilateral ptosis Hip contracture Centrally nucleated skeletal muscle fibers Abnormal heart valve morphology Exertional dyspnea Difficulty climbing stairs Generalized amyotrophy Ophthalmoparesis Gowers sign Congenital contracture Dysphonia Facial diplegia EMG: myopathic abnormalities External ophthalmoplegia Respiratory insufficiency due to muscle weakness Scapular winging Progressive muscle weakness Left ventricular hypertrophy Waddling gait Generalized muscle weakness Long face Ophthalmoplegia Difficulty running Type 1 muscle fiber predominance Hyperlordosis Recurrent fractures Hyperpigmentation of the skin Tall stature Broad-based gait Thick lower lip vermilion Intellectual disability, profound High myopia Wide intermamillary distance Webbed neck Generalized myoclonic seizures Postural instability Unsteady gait Axial muscle weakness Abnormality of movement Facial asymmetry Synophrys Prominent nasal bridge Short philtrum Intellectual disability, moderate Kyphoscoliosis Myoclonus Gait disturbance EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Distal muscle weakness Facial palsy Spontaneous abortion Hyperuricemia Pterygium Scrotal hypoplasia Spina bifida occulta Abnormality of the genital system Overgrowth Cleft upper lip Toe syndactyly Elevated serum creatinine Gout Focal segmental glomerulosclerosis Hypoplasia of the uterus Preaxial polydactyly Chronic kidney disease Neutropenia Hematuria Postnatal growth retardation Proteinuria Hypertension Abnormally large globe Flat occiput Thin vermilion border Bifid scrotum Cutaneous finger syndactyly Proximal muscle weakness Pyramidal skinfold extending from the base to the top of the nails Dyspnea Pes cavus Areflexia Kyphosis Congestive heart failure Myopathy Cardiomyopathy Skeletal muscle atrophy Motor delay Muscle weakness Intercrural pterygium Bilateral cleft lip Absent scrotum Fibrous syngnathia Lower lip pit Abnormality of the scrotum Hypoplasia of the vagina Popliteal pterygium Ankyloblepharon Labial hypoplasia Hypoplastic labia majora Bilateral cleft lip and palate Narrow face Sparse eyebrow Upslanted palpebral fissure Recurrent upper respiratory tract infections Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Leukopenia Abnormality of the pancreas Abnormality of the hair Chronic diarrhea Depressed nasal ridge Fine hair Pancytopenia Aciduria Premature birth Wide nose Hepatic failure Cirrhosis Villous atrophy Abnormal thrombocyte morphology Delayed puberty Abnormality of iron homeostasis Rod-cone dystrophy Pneumonia Visual loss Renal insufficiency Brachydactyly Visual impairment Nystagmus Ataxia Abnormalities of placenta or umbilical cord Large placenta Galactosuria Peripheral pulmonary artery stenosis Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Dry skin Microtia Decreased muscle mass Autism Sleep apnea Hypercholesterolemia Stereotypy Abnormality of the cardiovascular system Delayed myelination Triangular face Hypermetropia Attention deficit hyperactivity disorder Autistic behavior EEG abnormality Abnormality of the dentition Failure to thrive in infancy Dysphagia Asymmetry of the ears Long palm Focal motor seizures Narrow palm Long hallux Small earlobe Hyperextensibility of the finger joints Slender build Epileptic spasms Patent foramen ovale Language impairment Sparse hair Prominent nasal tip Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Jaundice Polyhydramnios Diarrhea Edema Receptive language delay Central sleep apnea Expressive language delay Poor fine motor coordination Oral-pharyngeal dysphagia Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Poor eye contact High hypermetropia Dysphasia Open bite Abnormality of dental morphology Unilateral primary pulmonary dysgenesis



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