Cognitive impairment, and Broad nasal tip

Diseases related with Cognitive impairment and Broad nasal tip

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


Top matches:

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

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE


AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

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Other less relevant matches:

Medium match CORNELIA DE LANGE SYNDROME 5; CDLS5


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

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 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Medium match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Medium match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Broad nasal tip

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Broad nasal tip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Deeply set eye

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Thin vermilion border Hearing impairment Postnatal growth retardation Inguinal hernia Short neck Microcephaly Clinodactyly Small hand Anteverted nares Micrognathia Clinodactyly of the 5th finger Generalized hypotonia Ventriculomegaly Wide nose Depressed nasal bridge Thin upper lip vermilion Growth delay Intrauterine growth retardation Triangular face Obesity Scoliosis Retrognathia Bulbous nose Malar flattening Abnormality of the skeletal system Gastroesophageal reflux Neoplasm Severe short stature Feeding difficulties in infancy Failure to thrive Mandibular prognathia Hypothyroidism Conductive hearing impairment Abnormality of cardiovascular system morphology Frontal bossing Dilated cardiomyopathy Toe syndactyly Short palm High pitched voice Wide intermamillary distance Small for gestational age Feeding difficulties Prominent nasal bridge Upslanted palpebral fissure Sparse hair Smooth philtrum Hypoplasia of the corpus callosum Wide nasal bridge Cryptorchidism Truncal obesity Delayed cranial suture closure Short foot Abnormality of the dentition Highly arched eyebrow Downturned corners of mouth Synophrys Brachycephaly Intellectual disability, mild Nystagmus Dysarthria Broad forehead Aggressive behavior Downslanted palpebral fissures Macrocephaly Long face Cleft palate Brachydactyly Tremor Hyperactivity Ataxia

Rare Symptoms - Less than 30% cases


Constipation Epidermal acanthosis Sparse scalp hair Finger clinodactyly Hyperreflexia Acanthosis nigricans Nasal speech Delayed eruption of teeth Coarctation of aorta Dental malocclusion Sensorineural hearing impairment Muscular hypotonia Pain Hydrocephalus Webbed neck Pectus excavatum Cerebellar hypoplasia Dysmetria Ptosis Thick lower lip vermilion Hypogonadism Micropenis Telecanthus Cleft lip Microtia Hirsutism Syndactyly Abnormal pyramidal sign Autistic behavior Decreased testicular size Long eyelashes Narrow mouth Ventricular septal defect Delayed skeletal maturation Diabetes mellitus Midface retrusion Coarse facial features Hernia Hypermetropia Broad columella Rough bone trabeculation Cataract Gait disturbance Cardiomyopathy Babinski sign High forehead Short philtrum Generalized hirsutism Tracheomalacia Abnormality of the metaphysis Abnormality of the skin Apraxia Camptodactyly of finger Joint stiffness Hyperlordosis Skeletal dysplasia Misalignment of teeth Low hanging columella Nephroblastoma Prominent forehead Underdeveloped nasal alae Craniosynostosis Infantile muscular hypotonia Umbilical hernia Attention deficit hyperactivity disorder Hydronephrosis Joint hyperflexibility Thick vermilion border Posteriorly rotated ears Abnormal heart morphology Pyloric stenosis Narrow forehead Broad-based gait Dilatation Headache Aortic valve stenosis Multicystic kidney dysplasia Short chin Atrial septal defect Depressed nasal ridge Anxiety Poor speech Motor delay Dolichocephaly Short metacarpal Lipodystrophy Spasticity Joint laxity Short phalanx of finger Short metatarsal Delayed closure of the anterior fontanelle Bilateral single transverse palmar creases High, narrow palate Hypoplasia of the maxilla Arrhythmia Psychomotor deterioration Large forehead Specific learning disability Dementia Hypertension Natal tooth Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Vacuolated lymphocytes Cerebral degeneration Angiokeratoma corporis diffusum Hypoplastic vertebral bodies Thickened ribs Thickened calvaria Partial agenesis of the corpus callosum Cherry red spot of the macula Abnormality of the scrotum Mixed hearing impairment Dysphasia Visual field defect Holoprosencephaly Spina bifida Spontaneous abortion Wide mouth Narrow palate Intellectual disability, moderate Arthritis Microretrognathia Osteolysis Spina bifida occulta Kyphoscoliosis Vomiting Cutaneous syndactyly Mutism Increased susceptibility to fractures Metaphyseal widening Overfolded helix Hypospadias Flat occiput Hyperostosis Aphasia Hypoplastic left heart Exaggerated startle response Curved fingers Abnormal diaphysis morphology Macrotia Abnormality of movement Corneal opacity Echolalia Osteopetrosis Developmental regression Hypertrophic cardiomyopathy Hepatosplenomegaly Arthralgia Ankylosis Weight loss Abdominal distention Recurrent respiratory infections Kyphosis Splenomegaly Dystonia Congestive heart failure Blindness Optic atrophy Skeletal muscle atrophy Hepatomegaly Neurodegeneration Macroglossia Submucous cleft hard palate Abnormal heart valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Joint contracture of the hand Abnormality of the retinal vasculature Dysostosis multiplex Anal stenosis Beaking of vertebral bodies White forelock Facial paralysis Generalized dystonia Broad ribs Ectopic anus Bundle branch block Encephalitis Abnormality of the urinary system Thoracic dysplasia Gingival overgrowth Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Fibular hypoplasia Hypertrichosis Cardiomegaly Increased bone mineral density Malabsorption Neurological speech impairment Speech apraxia Facial palsy Unilateral facial palsy Short upper lip Camptodactyly Apnea Spinal dysraphism Stiff neck Tethered cord Hyperextensibility of the finger joints Enlarged joints Patent ductus arteriosus Paralysis 11 pairs of ribs High iliac wings Villous atrophy Enuresis Ophthalmoplegia Anal atresia Facial hyperostosis Short attention span Polyhydramnios Myopathy Flexion contracture of toe Abnormal soft palate morphology Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Broad clavicles Broad fingertip Alobar holoprosencephaly Generalized cerebral atrophy/hypoplasia Intellectual disability, severe Expressive language delay Laryngotracheomalacia Large iliac wings Craniofacial osteosclerosis Mesocardia Muscle weakness Flexion contracture Epicanthus Talipes equinovarus Laryngeal web Arachnodactyly Osteopathia striata Abnormal vertebral morphology Cerebral calcification Broad thumb Recurrent otitis media Short palpebral fissure Low posterior hairline Interphalangeal joint contracture of finger Intestinal malrotation Hypoplasia of penis Microdontia Otitis media Prominent nose Nephrocalcinosis Metaphyseal striations Oligohydramnios Lumbar hyperlordosis Open mouth Straight clavicles Omphalocele Aganglionic megacolon Enlarged naris Large fontanelles Dental crowding Short thumb Abnormality of the fingernails Cleft upper lip Thoracolumbar kyphosis Abnormality of the clavicle Asymmetry of the thorax Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Sclerosis of skull base Flat face Short clavicles Proportionate short stature Abnormality of the hand Celiac disease Preauricular pit Otosclerosis Impulsivity Clubbing Language impairment Trigonocephaly Abnormality of the voice Fibular aplasia Bifid uvula Pierre-Robin sequence Congenital diaphragmatic hernia Long neck Prominent frontal sinuses Congenital hip dislocation Progressive microcephaly Pachygyria Intellectual disability, profound High myopia Dandy-Walker malformation Polymicrogyria Carious teeth Short nose Aplasia/Hypoplasia of the maxilla Bidirectional ventricular ectopy Cutis laxa Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Lissencephaly Coarse hair Abnormal atrioventricular conduction Abnormality of the intrinsic pathway Proximal placement of thumb Prominent supraorbital ridges Widely spaced teeth Low anterior hairline Gynecomastia Nevus Myopia Abnormal apolipoprotein level Subretinal pigment epithelium hemorrhage Fragmented elastic fibers in the dermis Thick cerebral cortex Redundant skin Abnormal subcutaneous fat tissue distribution Prominent veins on trunk Prominent nasolabial fold Abnormal isoelectric focusing of serum transferrin Excessive wrinkled skin Thick hair Redundant neck skin Generalized joint laxity Decreased muscle mass Emphysema Abnormal T-wave Torsade de pointes Limited elbow extension Brisk reflexes Short ear Mesiodens Narrow nasal tip Poor motor coordination Abnormal social behavior Nonprogressive cerebellar ataxia Positive Romberg sign Impaired social interactions Abnormal cortical gyration Palpebral edema Pointed chin Hypoplastic hippocampus Intention tremor Memory impairment Generalized myoclonic seizures Unsteady gait Protruding ear Neonatal hypotonia Gait ataxia Cerebral cortical atrophy Cerebellar atrophy Edema Hippocampal atrophy Segmental myoclonic seizures T-wave inversion Reduced tendon reflexes Left bundle branch block Ventricular extrasystoles Short finger Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Growth abnormality Ventricular arrhythmia Oligodontia Abnormal palate morphology Depressivity Ventricular tachycardia Scapular winging Cardiac arrest Hypoplasia of dental enamel Palpitations Febrile seizures Syncope Sudden cardiac death Limb muscle weakness Elevated serum creatine phosphokinase Cutis marmorata Nevus flammeus Gastrointestinal stroma tumor Retinopathy Sloping forehead Bradykinesia Pigmentary retinopathy Limb undergrowth Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Polyneuropathy Sensory neuropathy Falls Rigidity Renal hypoplasia Pes cavus Thrombocytopenia Recurrent infections Immunodeficiency Peripheral neuropathy Anemia Self-biting Pain insensitivity Abnormal aortic morphology Subvalvular aortic stenosis Hypotelorism Cutaneous photosensitivity Renal neoplasm Sensory axonal neuropathy Multinodular goiter Glioma Chronic lung disease Shuffling gait Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Cortical gyral simplification Ectopic kidney Bilateral cryptorchidism Abnormal lung morphology Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Goiter Leukopenia Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Broad face Overweight Happy demeanor Sandal gap Small face Maternal diabetes Severe failure to thrive Severe intrauterine growth retardation Multiple cafe-au-lait spots Reduced subcutaneous adipose tissue Agitation Radial deviation of finger Patent foramen ovale Pterygium Accelerated skeletal maturation Perimembranous ventricular septal defect Cafe-au-lait spot Decreased body weight Blue sclerae Type II diabetes mellitus Lymphoma Everted lower lip vermilion Inability to walk Short distal phalanx of finger Muscular hypotonia of the trunk Hypertonia Abnormality of the rib cage Esodeviation Supernumerary nipple Sleep disturbance Mild short stature Obsessive-compulsive behavior Self-injurious behavior Laryngomalacia Narrow palpebral fissure Short toe Sparse and thin eyebrow Stereotypy Eczema Round face Finger syndactyly Broad finger Scarring Blepharophimosis Pes planus Autism Hyporeflexia Behavioral abnormality Increased serum insulin-like growth factor 1 Burkitt lymphoma Hypoplastic facial bones Prominent scalp veins Rieger anomaly Paranasal sinus hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Visual loss, related diseases and genetic alterations Hepatomegaly and Pneumonia, related diseases and genetic alterations Tremor and Increased serum lactate, related diseases and genetic alterations Spasticity and Fever, related diseases and genetic alterations Sensorineural hearing impairment and Talipes, related diseases and genetic alterations Sensorineural hearing impairment and Myopathy, related diseases and genetic alterations Seizures and Holoprosencephaly, related diseases and genetic alterations

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