Cognitive impairment, and Long philtrum

Diseases related with Cognitive impairment and Long philtrum

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Long philtrum 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 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 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 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Medium match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Medium match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Medium 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

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Long philtrum

Symptoms // Phenotype % cases
Anteverted nares Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Long philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Short stature Ptosis Abnormal facial shape Wide nasal bridge Hypertelorism Scoliosis Cleft palate Flexion contracture Depressed nasal bridge Strabismus Pes planus Hyperactivity Macrocephaly Frontal bossing Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Cryptorchidism Small for gestational age Abnormality of the nervous system Respiratory failure Palpebral edema Pneumonia Umbilical hernia Single transverse palmar crease Motor delay Thick lower lip vermilion Hyperextensible skin Growth delay Microcephaly Everted lower lip vermilion Muscular hypotonia Small hand Mild global developmental delay Brachydactyly Joint hypermobility Smooth philtrum Synophrys Attention deficit hyperactivity disorder Thin upper lip vermilion Coarse facial features Inguinal hernia Upper airway obstruction Epicanthus Short neck Clinodactyly Abnormality of the dentition Behavioral abnormality Clinodactyly of the 5th finger Brachycephaly Progressive neurologic deterioration Hirsutism Downturned corners of mouth Bulbous nose Short foot Memory impairment Dilatation Camptodactyly of finger Micrognathia Wide nose Dysarthria Thin vermilion border Broad forehead Narrow mouth Intellectual disability, mild Ataxia Cerebral cortical atrophy Low-set ears Gastroesophageal reflux Joint hyperflexibility Talipes Cleft upper lip Short palm Oral cleft Thick eyebrow Poor speech Pulmonic stenosis Highly arched eyebrow Long eyelashes Hypertrichosis Atrial septal defect Apnea Camptodactyly Proptosis Recurrent respiratory infections Midface retrusion Malar flattening Hydrocephalus Abnormal cardiac septum morphology Limited elbow movement Thick hair Cutis marmorata Proximal placement of thumb Finger clinodactyly Low anterior hairline Prominent nasal bridge High pitched voice Postnatal growth retardation Megalocornea Hyperkinesis Abnormality of the cervical spine High anterior hairline Genu recurvatum Cholelithiasis 2-3 toe syndactyly Broad foot Thoracic hypoplasia External ear malformation Hypoplastic nipples Protuberant abdomen Episodic abdominal pain Dysostosis multiplex Shawl scrotum Feeding difficulties in infancy Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Hearing impairment Broad palm Myopia Round face Hypoplasia of the maxilla Respiratory tract infection Delayed eruption of teeth Abnormality of the pinna Choanal atresia Craniosynostosis Narrow forehead Retrognathia Congestive heart failure Infra-orbital fold Upper eyelid edema Joint laxity Abnormal lip morphology Irregular dentition Sparse hair Ichthyosis Bruising susceptibility Thick vermilion border Urethral stenosis Eclabion Overgrowth High myopia Osteoporosis Sparse scalp hair Decreased body weight Bronchiectasis Gingival overgrowth Generalized osteoporosis Sparse and thin eyebrow Hypergonadotropic hypogonadism Cutis laxa Abnormality of the vasculature Abnormality of the sternum Redundant skin Increased susceptibility to fractures Aortic aneurysm Prolonged bleeding time Hypogonadism Generalized hirsutism Narrow chest Choanal stenosis Arachnodactyly Premature ovarian insufficiency Finger syndactyly Wide anterior fontanel Abnormality of the genitourinary system Radioulnar synostosis Rocker bottom foot Multiple joint contractures Malnutrition Femoral bowing Slender finger Esophageal atresia Coronal craniosynostosis Stenosis of the external auditory canal Hypoplastic labia majora Alopecia Vaginal atresia Abnormal renal morphology Lambdoidal craniosynostosis Humeroradial synostosis Ulnar bowing Narrow iliac wings Narrow pelvis bone Pear-shaped nose Bicoronal synostosis Low-set, posteriorly rotated ears Fused labia minora Pectus excavatum Abnormality of cardiovascular system morphology Hernia Sleep apnea Ketoacidosis Hoarse voice Nonprogressive cerebellar ataxia Hippocampal atrophy Short ear Mesiodens Narrow nasal tip Poor motor coordination Abnormal social behavior Positive Romberg sign Segmental myoclonic seizures Impaired social interactions Abnormal cortical gyration Large forehead Brisk reflexes Infantile muscular hypotonia Pointed chin Hypoplastic hippocampus Spasticity Intention tremor Paralysis Coma Metabolic acidosis Lactic acidosis Abnormality of eye movement Ophthalmoplegia Lethargy Acidosis Ventriculomegaly Agenesis of corpus callosum Areflexia Encephalopathy Cerebral atrophy Dystonia Intellectual disability, severe Depressed nasal ridge Generalized myoclonic seizures Brain atrophy Hypertonia Hypohidrosis Limitation of joint mobility Full cheeks Sudden cardiac death Hyperhidrosis Kyphosis Respiratory insufficiency Large face Feeding difficulties Abnormally large globe Submucous cleft hard palate Flat occiput Bifid uvula Syndactyly Malignant hyperthermia Nystagmus Broad nasal tip Aggressive behavior Long face Unsteady gait Dysmetria Abnormal pyramidal sign Autistic behavior Protruding ear Neonatal hypotonia Delayed speech and language development Deeply set eye Gait ataxia Cerebellar hypoplasia Constipation Cerebellar atrophy Edema Tremor Tetraplegia Increased serum lactate Low posterior hairline Hyperglycemia Autoimmune antibody positivity Aspiration pneumonia Prominent metopic ridge Abnormality of the immune system Abnormality of the ear Polyuria Radial deviation of finger Pancreatic hypoplasia Polydipsia Bilateral ptosis Failure to thrive in infancy Type I diabetes mellitus Aspiration Hypsarrhythmia Limb joint contracture Beta-cell dysfunction Confusion Prominent forehead Macroglossia High, narrow palate Developmental regression Elevated hepatic transaminase Hepatosplenomegaly Abdominal pain Abnormality of metabolism/homeostasis Transient neonatal diabetes mellitus Splenomegaly Hepatomegaly Pain Clinodactyly of the 4th finger Elevated hemoglobin A1c Thickened ears Dehydration Muscular hypotonia of the trunk Spastic tetraplegia Infantile spasms Short attention span Preeclampsia Mild microcephaly Ketosis Hyperventilation Central hypotonia Partial agenesis of the corpus callosum Breech presentation Global brain atrophy Hyperammonemia Tachypnea Heterotopia Clumsiness Choreoathetosis Increased CSF lactate Episodic ataxia Diabetes mellitus Apneic episodes precipitated by illness, fatigue, stress Short nose Vomiting Intrauterine growth retardation Peripheral neuropathy Muscle weakness Failure to thrive Basal ganglia cysts Severe lactic acidosis Chronic lactic acidosis Congenital lactic acidosis Decreased activity of the pyruvate dehydrogenase complex Flared nostrils Hyperalaninemia Olivopontocerebellar atrophy Broad philtrum Abnormal vertebral segmentation and fusion



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