Cognitive impairment, and Clinodactyly

Diseases related with Cognitive impairment and Clinodactyly

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


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME


Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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Other less relevant matches:

Low match MASA SYNDROME


MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Low match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Low 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

Low 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

Low 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

Low match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Clinodactyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Clinodactyly of the 5th finger Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Ptosis Small hand Generalized hypotonia Abnormal facial shape Long philtrum Brachydactyly Behavioral abnormality Anteverted nares Syndactyly Abnormality of the dentition Microcephaly Cleft palate Micrognathia

Rare Symptoms - Less than 30% cases


Motor delay Hypoplasia of the maxilla Spasticity Intrauterine growth retardation Low-set ears Delayed speech and language development Wide nasal bridge Strabismus Toe syndactyly Downslanted palpebral fissures Camptodactyly of finger Abnormality of the nervous system Joint hyperflexibility Short palm Broad forehead Mild global developmental delay Hypertelorism High palate Ataxia Hypogonadism Downturned corners of mouth Thin upper lip vermilion Thin vermilion border Bulbous nose Short neck Brachycephaly Cryptorchidism Short foot Hemiplegia/hemiparesis Postnatal growth retardation Attention deficit hyperactivity disorder Broad palm Abnormal cardiac septum morphology Finger syndactyly Talipes Cleft upper lip Oral cleft Everted lower lip vermilion Feeding difficulties in infancy Myopia Single transverse palmar crease Hyperextensible skin Pes planus Gastroesophageal reflux Delayed eruption of teeth Round face Depressed nasal bridge Low-set, posteriorly rotated ears Long eyelashes Prominent nasal bridge Smooth philtrum Hypertrichosis Highly arched eyebrow Hirsutism Megalocornea Low anterior hairline Thick eyebrow Finger clinodactyly Proximal placement of thumb Cutis marmorata Thick hair Pulmonic stenosis Limited elbow movement Poor speech Synophrys Epicanthus Congestive heart failure Abnormality of cardiovascular system morphology Pectus excavatum Inguinal hernia Umbilical hernia Shawl scrotum Joint laxity External ear malformation Torsade de pointes Reduced tendon reflexes Oligodontia Ventricular arrhythmia Growth abnormality Short metatarsal Myotonia 2-3 toe syndactyly Right bundle branch block Prolonged QT interval Short finger Ventricular extrasystoles Left bundle branch block T-wave inversion Abnormal atrioventricular conduction Ventricular tachycardia Abnormal T-wave Periodic paralysis Delayed eruption of permanent teeth First degree atrioventricular block Clinodactyly of the 5th toe Short digit Short mandibular rami Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Muscle fiber tubular inclusions Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Abnormal palate morphology Scapular winging Broad foot Dolichocephaly Genu recurvatum High anterior hairline Abnormality of the cervical spine Abnormal vertebral segmentation and fusion Schizophrenia Bipolar affective disorder Malar flattening Depressivity Arrhythmia Elevated serum creatine phosphokinase Retrognathia Hearing impairment Dilated cardiomyopathy Limb muscle weakness Bilateral single transverse palmar creases Wide nose High, narrow palate Triangular face Broad nasal tip Sudden cardiac death Syncope Short metacarpal Febrile seizures Specific learning disability Palpitations Hypoplasia of dental enamel Short phalanx of finger Cardiac arrest Growth delay Type I diabetes mellitus Clinodactyly of the 4th finger Macrocephaly Progressive cerebellar ataxia Chorea Epileptic encephalopathy Generalized-onset seizure Narrow forehead Diplopia Cerebral visual impairment Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Hyperreflexia Gait disturbance Dysmetria Talipes equinovarus Ventriculomegaly Hydrocephalus Intellectual disability, mild Kyphosis Babinski sign Agenesis of corpus callosum Pes cavus Hyperlordosis Spastic paraplegia Paraplegia Lumbar hyperlordosis Tapered finger Gait ataxia Muscle stiffness Muscular hypotonia Blindness Obesity Rod-cone dystrophy Polydactyly Reduced visual acuity Nyctalopia Retinal degeneration Retinal dystrophy Renal cyst Anosmia External genital hypoplasia Nystagmus Optic atrophy Encephalopathy Dementia Neurological speech impairment Abnormality of retinal pigmentation Gynecomastia Hypogonadotrophic hypogonadism Abnormal electroretinogram Personality changes Supernumerary nipple Decreased fertility Abnormality of the hypothalamus-pituitary axis Visual impairment Dysarthria Interphalangeal joint contracture of finger Paraparesis Elevated hemoglobin A1c Radial deviation of finger Pneumonia Diabetes mellitus Muscular hypotonia of the trunk Small for gestational age Confusion Dehydration Hypsarrhythmia Progressive neurologic deterioration Aspiration Failure to thrive in infancy Bilateral ptosis Polydipsia Hyperglycemia Vomiting Polyuria Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Ketoacidosis Aspiration pneumonia Autoimmune antibody positivity Limb joint contracture Pancreatic hypoplasia Beta-cell dysfunction Transient neonatal diabetes mellitus Thickened ears Short nose Peripheral neuropathy Spastic paraparesis Hip dysplasia Adducted thumb Aphasia Progressive spasticity Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Severe hydrocephalus Delayed skeletal maturation Glaucoma Craniosynostosis Convex nasal ridge Flexion contracture Sparse scalp hair Narrow face Abnormality of dental enamel Sandal gap Reduced number of teeth Cachexia Cone-shaped epiphysis Prematurely aged appearance Abnormality of earlobe Absent earlobe Failure to thrive Muscle weakness Aplasia/Hypoplasia of the maxilla



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