Cognitive impairment, and Prominent nose

Diseases related with Cognitive impairment and Prominent nose

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


Top matches:

Medium match NANCE-HORAN SYNDROME


Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

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Other less relevant matches:

Medium match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Medium match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF


Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Medium match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Prominent nose

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Prominent nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Autism Short stature Long face Prominent nasal bridge Micrognathia Macrocephaly Gait ataxia Downslanted palpebral fissures Deeply set eye Attention deficit hyperactivity disorder Sensorineural hearing impairment Psychosis Choreoathetosis Seizures Generalized hypotonia Ataxia Flexion contracture Hyperreflexia Abnormal facial shape Cerebellar hypoplasia Cryptorchidism Spasticity Hydrocephalus Motor delay Hyperactivity Prominent forehead High forehead Hypertelorism Low-set ears Macrotia Mandibular prognathia Microphthalmia Intellectual disability, moderate Protruding ear Behavioral abnormality High palate Failure to thrive Growth delay Narrow face Abnormality of the dentition Cataract Strabismus Nystagmus Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Carious teeth Genu valgum Narrow palate Inguinal hernia Long nose Dementia Camptodactyly Gait disturbance Wide nasal bridge Difficulty walking Aggressive behavior Babinski sign Wide mouth Intrauterine growth retardation Overbite Anemia Brachydactyly Abnormality of the skeletal system Midface retrusion Hallucinations Intestinal malrotation Astigmatism Hydronephrosis Cleft palate Cerebellar vermis hypoplasia Anxiety Clinodactyly Epicanthus Cerebral cortical atrophy Intellectual disability, severe Ventriculomegaly Tremor Muscular hypotonia Dysarthria Anodontia Thin upper lip vermilion Triangular face Hearing impairment Microcornea Hypertension Autistic behavior Cerebellar atrophy Ptosis Micropenis Dental malocclusion Abnormal cerebellum morphology Pectus excavatum Dysmetria Short philtrum Neoplasm of the skin Cerebellar vermis atrophy Ankle contracture Premature loss of teeth Upper limb muscle weakness Scleroderma Cafe-au-lait spot Dysuria Decreased body weight Abnormality of the thumb Spastic dysarthria Speech apraxia Upper limb spasticity Bone marrow hypocellularity Dysphagia Cutaneous photosensitivity Microdontia Panic attack Kyphoscoliosis Pes cavus Delayed myelination Mood swings Abnormality of the nares Chorea Abnormality of brain morphology Brain atrophy Progressive cerebellar ataxia Abnormal hand morphology Knee clonus Constipation Ankle clonus Hammertoe Spastic diplegia Spastic gait Anteverted nares Skeletal muscle atrophy Sleep disturbance Short foot Distal amyotrophy Joint hypermobility Gliosis Specific learning disability Overgrowth Lower limb muscle weakness Paraplegia Lower limb spasticity Progressive muscle weakness Muscle weakness Clonus Freckling Drooling Impaired vibratory sensation Tubular atrophy Emotional lability Abnormality of the hand Slurred speech Verrucae Spastic paraparesis Numerous pigmented freckles Spastic paraplegia Abnormality of the foot Morphological abnormality of the central nervous system Defective DNA repair after ultraviolet radiation damage Cholangiocarcinoma Seborrheic keratosis Hoarse voice Primary amenorrhea Narrow jaw Depressivity Pectus carinatum Respiratory tract infection Cleft lip Joint laxity Gastroesophageal reflux Posteriorly rotated ears Clinodactyly of the 5th finger Patent ductus arteriosus Hypospadias Pulmonic stenosis Hernia Short nose Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Small for gestational age Facial asymmetry Abnormal T-wave Aortic valve stenosis Subvalvular aortic stenosis Broad face Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Horseshoe kidney Aspiration Anorexia Joint hyperflexibility Stereotypy Dental crowding Pulmonary arterial hypertension Single transverse palmar crease Tapered finger Everted lower lip vermilion Abnormality of skin pigmentation Oral cleft Abnormal spermatogenesis Decreased serum estradiol Suicidal ideation Diabetes mellitus Sensory neuropathy Abnormality of movement Delayed puberty Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Mental deterioration Hypothyroidism Hypogonadism Decreased testicular size Alopecia Abnormality of metabolism/homeostasis Dystonia Diarrhea Peripheral neuropathy Hyperplasia of midface Hyperextensible hand joints Morphea Polyneuropathy Amenorrhea Decreased serum testosterone level Hyperlipidemia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Purpura Dehydration Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Sparse scalp hair Papule Myocardial infarction Fine hair Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Muscle cramps Abnormal vertebral morphology Erythema Basal ganglia calcification Coloboma Abnormality of the pinna Polydactyly Agenesis of corpus callosum Myopathy Abnormality of the basal ganglia High-frequency hearing impairment Aplasia/Hypoplasia of the cerebellum Iris coloboma Self-injurious behavior Pointed chin Cerebral calcification Dandy-Walker malformation Neurodegeneration Thick vermilion border Coarse facial features Malabsorption Renal hypoplasia Infra-orbital crease Accessory spleen Syndactyly Myopia Corneal astigmatism Jejunal atresia Hypoplastic iris stroma Bilateral renal hypoplasia Retinal vascular tortuosity Intestinal atresia Short palpebral fissure Peters anomaly Sex reversal Ectopia pupillae Duodenal atresia Sclerocornea Short columella Preaxial polydactyly Optic nerve hypoplasia Disorganization of the anterior cerebellar vermis Retrocerebellar cyst Retrognathia Widely spaced teeth Diastema Pendular nystagmus Severe vision loss Increased number of teeth Narrow nasal bridge Blurred vision Hypophosphatemia Short phalanx of finger Multiple impacted teeth Short metacarpal Retinal detachment Congenital cataract Reduced visual acuity Glaucoma Visual loss Blindness Visual impairment Broad finger Sutural cataract Abnormality of the philtrum Intention tremor Microphallus Enlarged cisterna magna Poor eye contact External genital hypoplasia Focal impaired awareness seizure Prominent supraorbital ridges Scrotal hypoplasia Hypotelorism Mesiodens Focal-onset seizure Poor speech Neurological speech impairment Neonatal hypotonia Dilatation Screwdriver-shaped incisors Supernumerary maxillary incisor Posterior Y-sutural cataract Delayed skeletal maturation Postnatal growth retardation Abnormality of the nervous system Abnormality of the thorax Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Back pain Spondylolisthesis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Abnormality of the fingernails Wormian bones Abnormality of the nail Osteolytic defects of the phalanges of the hand Ridged nail Short toe Persistent open anterior fontanelle Proteinuria Photophobia Cerebral atrophy Renal insufficiency Feeding difficulties Neoplasm Abnormal pelvis bone ossification Osteolytic defects of the distal phalanges of the hand Small face Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Increased bone mineral density Bone pain Hirsutism Preeclampsia Kyphosis Splenomegaly Hepatomegaly Pain Posterior helix pit Mild myopia Pes valgus Low hanging columella Osteoporosis Broad hallux Overlapping toe Delayed gross motor development Long eyelashes Broad thumb Convex nasal ridge Premature birth Highly arched eyebrow Malar flattening Brachycephaly Abnormality of epiphysis morphology Postural instability Abnormality of the face Small nail Blue sclerae Abnormality of the skin Growth hormone deficiency Hypoplasia of the maxilla Hypodontia Recurrent fractures Proptosis Delayed eruption of teeth Short distal phalanx of finger Narrow chest Craniosynostosis Hyperlordosis Apnea Hepatosplenomegaly Skeletal dysplasia Six lumbar vertebrae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Facial asymmetry, related diseases and genetic alterations Brachydactyly and Microphthalmia, related diseases and genetic alterations Hydrocephalus and Hypotrichosis, related diseases and genetic alterations Hypertension and Paresthesia, related diseases and genetic alterations Micrognathia and Myeloid leukemia, related diseases and genetic alterations Anemia and Hyperreflexia, related diseases and genetic alterations

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