Cognitive impairment, and Choanal atresia

Diseases related with Cognitive impairment and Choanal atresia

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


Top matches:

Low match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

Low match FEINGOLD SYNDROME 1; FGLDS1


Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low 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

Low match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Low match CHOROID PLEXUS CARCINOMA


Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

Low match AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1


Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Low match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Choanal atresia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Choanal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Cleft palate Short stature Hearing impairment Microcephaly Hypertelorism Abnormality of the skeletal system Anal atresia Flexion contracture Failure to thrive Inguinal hernia Syndactyly Dilatation Macrotia Umbilical hernia Cryptorchidism Depressed nasal bridge Frontal bossing Hydrocephalus Hypospadias Recurrent respiratory infections Craniosynostosis Telecanthus Single transverse palmar crease Wide nasal bridge Hydronephrosis Prominent forehead Feeding difficulties Specific learning disability Respiratory failure Low-set ears Short neck Anteverted nares Abnormal heart morphology Strabismus Anal stenosis Myopia Hernia Patent ductus arteriosus Hypoplastic labia majora Atrial septal defect Posteriorly rotated ears Respiratory distress Ventriculomegaly Wide anterior fontanel Cleft upper lip

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Muscle weakness Muscular hypotonia Attention deficit hyperactivity disorder Retrognathia Immunodeficiency Telangiectasia Neurodegeneration Prominent nose Otitis media Sloping forehead Scrotal hypoplasia Abnormality of the genital system Abnormality of the hair Hyperactivity Confusion Abnormal eyelid morphology Abnormality of the nasopharynx Generalized hypotonia Mental deterioration Intellectual disability, moderate Abnormality of the nail High forehead Downslanted palpebral fissures Agenesis of corpus callosum Shallow orbits Nystagmus Hypoplasia of the corpus callosum Intellectual disability, severe Kyphosis Cerebellar hypoplasia Cerebral cortical atrophy Spasticity Hydroureter Bifid scrotum Plagiocephaly Postaxial hand polydactyly Abnormality of the ribs Aganglionic megacolon Anteriorly placed anus Abnormality of the sternum Talipes equinovarus Camptodactyly of finger Constipation Gastroesophageal reflux Growth delay Conductive hearing impairment Joint laxity Joint stiffness Dolichocephaly Abnormality of cardiovascular system morphology Split hand Hypoplasia of the maxilla Bifid uvula Intestinal malrotation Cleft lip Joint contracture of the hand Narrow palate Neoplasm Non-midline cleft lip Hypoplasia of dental enamel Abnormality of the hand Upslanted palpebral fissure Aggressive behavior Thin upper lip vermilion Abnormality of the pinna Toe syndactyly Hypodontia Respiratory tract infection Narrow chest Oral cleft Everted lower lip vermilion Choanal stenosis Triangular face Arachnodactyly Progressive neurologic deterioration Radioulnar synostosis Esophageal atresia Abnormal vertebral morphology Slender finger Multiple joint contractures Abnormal form of the vertebral bodies Clinodactyly Finger syndactyly Vocal cord paralysis High palate Midface retrusion Brachycephaly Malar flattening Sensorineural hearing impairment Proptosis Epicanthus Long philtrum Apnea Unilateral chest hypoplasia Abnormal pelvis bone morphology Gait disturbance Lip pit Cataract Webbed neck Fibrous syngnathia Cerebral palsy Visual impairment Thin fingernail Motor delay Ichthyosis follicularis Macrocephaly Lumbar hyperlordosis Optic atrophy Downturned corners of mouth Pterygium Absent speech Popliteal pterygium Wide mouth Anxiety Neonatal hypotonia Sparse hair Rigidity Hypoplasia of the bladder Broad forehead Ventricular septal defect Nonketotic hyperglycinemia Severe global developmental delay Unsteady gait Thin vermilion border Behavioral abnormality Ankyloblepharon Ankyloglossia Scleritis Abnormality of the upper urinary tract Cerebral cortical hemiatrophy Intestinal obstruction Submucous cleft hard palate Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Absent eyebrow Keratitis Unilateral renal agenesis Parakeratosis Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Opacification of the corneal stroma Abnormality of dental enamel Conjunctivitis Recurrent bacterial infections Hemivertebrae Multicystic kidney dysplasia Uveitis Alopecia of scalp Paronychia Thin eyebrow Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Thick lower lip vermilion Cheilitis Alopecia universalis Oxycephaly Alopecia totalis Blepharitis Olivopontocerebellar atrophy Recurrent corneal erosions Lower lip pit Intercrural pterygium Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Absent eyelashes Abnormal eyelash morphology Fine hair Hypoplastic labia minora Generalized hirsutism Wormian bones Mandibular prognathia Hypoplastic nipples Infantile spasms Short philtrum Microcornea Tibial bowing Opisthotonus Diabetes insipidus Tricuspid regurgitation Growth hormone deficiency Hypertrichosis Broad ribs Microdontia Hypsarrhythmia Sensory impairment Reduced number of teeth Macroglossia Hepatic steatosis Short distal phalanx of finger Slurred speech Paralysis Postnatal growth retardation Arachnoid cyst Short 1st metacarpal Hypothyroidism Sclerosis of skull base Embryonal neoplasm Widely patent fontanelles and sutures Hepatoblastoma Hyperconvex nail Teratoma Thickened cortex of long bones Facial hemangioma Sacrococcygeal teratoma Hypoplasia of first ribs Primitive neuroectodermal tumor Metopic suture patent to nasal root Glaucoma Wide cranial sutures Long clavicles Aplasia/Hypoplasia of the pubic bone Alacrima Increased density of long bones Short sternum Wide distal femoral metaphysis Blindness Abnormality of the dentition Bicornuate uterus Visual loss Coarse facial features Micropenis Ambiguous genitalia Bilateral choanal atresia Aniridia Megalocornea Optic nerve hypoplasia Posterior embryotoxon Hypoplasia of the iris Anterior synechiae of the anterior chamber Sacral dimple Abnormality of the abdominal wall Rieger anomaly Polycoria Gynecomastia Relative macrocephaly Dental crowding Axenfeld anomaly Ureteral stenosis Difficulty walking Broad thumb Pachygyria Heterotopia Neurological speech impairment Falls Open mouth Abnormality of dental morphology Pyloric stenosis Cerebral atrophy Gastrointestinal dysmotility Short nose Facial wrinkling Auricular pit Prominent supraorbital ridges Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Myotonia Sagittal craniosynostosis Delayed closure of the anterior fontanelle Congenital contracture Facial hypotonia Megalencephaly Skin tags Thoracic scoliosis Partial agenesis of the corpus callosum Broad hallux High pitched voice Bowing of the legs Radial deviation of finger Impulsivity Chorioretinal coloboma Abnormally prominent line of Schwalbe Genu recurvatum Hypohidrosis Abnormality of the nervous system Abnormality of the face Primary amenorrhea Cutaneous photosensitivity Amenorrhea Convex nasal ridge Lymphoma Hemolytic anemia Leukemia Small for gestational age Prominent nasal bridge Pneumonia Chronic diarrhea Thrombocytopenia Diarrhea Respiratory insufficiency Skeletal muscle atrophy Ataxia Deviation of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4-5 toe syndactyly Small anterior fontanelle Recurrent urinary tract infections Bronchiectasis Aplasia of the middle phalanx of the hand Abnormality of the musculature Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Neuroblastoma Autoimmune hemolytic anemia Freckling Cafe-au-lait spot Long nose Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Low anterior hairline Lymphopenia Sinusitis Annular pancreas Frontal balding Rhabdomyosarcoma Ulnar bowing Clinodactyly of the 5th finger Renal insufficiency Vomiting Brachydactyly Hypertension Fused labia minora Bicoronal synostosis Pear-shaped nose Narrow pelvis bone Narrow iliac wings Humeroradial synostosis Blepharophimosis Lambdoidal craniosynostosis Abnormal renal morphology Vaginal atresia Upper airway obstruction Stenosis of the external auditory canal Coronal craniosynostosis Femoral bowing Malnutrition Rocker bottom foot Abnormality of the genitourinary system Polyhydramnios Facial asymmetry Accessory spleen Prominent occiput Intestinal atresia Periorbital fullness Abnormality of the spleen Duodenal atresia Asplenia Polysplenia Short 5th finger Depressed nasal tip External ear malformation Abnormality of digit Hallux valgus Thick vermilion border 2-3 toe syndactyly Short middle phalanx of finger Tracheoesophageal fistula Nephritis Narrow palpebral fissure Finger clinodactyly Short toe Short thumb Short palpebral fissure Decreased fetal movement Glioma Abnormal hair quantity Renal dysplasia Hallux varus Polydactyly Hyperhidrosis Dementia Severe short stature Alopecia Delayed skeletal maturation Recurrent infections Microphthalmia C1-C2 vertebral abnormality Minimal subcutaneous fat Cranial asymmetry Photophobia Abdominal wall muscle weakness Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Lateral clavicle hook Dermal translucency Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Hyperkeratosis Abnormality of the kidney Spondylolisthesis Ichthyosis Omphalocele Epidermal acanthosis Oligohydramnios Eczema Nail dysplasia Ectodermal dysplasia Brain atrophy Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Dry skin Developmental regression Astigmatism Talipes Hypotrichosis Platyspondyly Nail dystrophy Papule Hip dislocation Corneal opacity Scarring Erythema Cloverleaf skull Communicating hydrocephalus Decrease in T cell count Pectus excavatum Joint hypermobility Joint hyperflexibility Genu valgum Abnormality of the foot Pectus carinatum Protruding ear Feeding difficulties in infancy Low-set, posteriorly rotated ears Pes planus Osteopenia Ptosis Dental malocclusion Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia High, narrow palate Mitral valve prolapse Missing ribs Elbow dislocation Microglossia Obstructive sleep apnea Arnold-Chiari type I malformation Aortic root aneurysm Dislocated radial head Thin ribs Fragile skin Disproportionate tall stature Metatarsus adductus Hammertoe Metaphyseal widening Interphalangeal joint contracture of finger Aortic aneurysm Ectopia lentis Hyperextensible skin Arnold-Chiari malformation Infantile muscular hypotonia Aortic regurgitation Amblyopia Bowing of the long bones Abnormality of the metaphysis Mitral regurgitation Blue sclerae Hypertonia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Respiratory tract infection, related diseases and genetic alterations Ptosis and Progressive neurologic deterioration, related diseases and genetic alterations Pain and Ventriculomegaly, related diseases and genetic alterations Flexion contracture and Interphalangeal joint contracture of finger, related diseases and genetic alterations

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