Intellectual disability, severe, and Clinodactyly of the 5th finger

Diseases related with Intellectual disability, severe and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

High match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT 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

Other less relevant matches:

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

High match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Thin upper lip vermilion Brachydactyly Brachycephaly Global developmental delay Bulbous nose Frontal bossing Hypoplasia of the corpus callosum Downslanted palpebral fissures Autism Behavioral abnormality Postnatal growth retardation Spasticity Prominent nose Thick eyebrow High forehead Low-set ears High palate Downturned corners of mouth Cryptorchidism Ptosis Broad forehead Wide nasal bridge Delayed speech and language development Synophrys Ventricular septal defect Cataract Facial asymmetry Visual impairment Optic atrophy Aggressive behavior Coarse facial features Gait ataxia Long philtrum Intrauterine growth retardation Microphthalmia Ventriculomegaly Short nose Micropenis Wide mouth Muscular hypotonia of the trunk Short chin Finger clinodactyly Decreased testicular size Intellectual disability, profound Dental crowding Clinodactyly Short palm Prominent nasal bridge Hyperactivity Relative macrocephaly Macrocephaly Absent speech Short philtrum Intellectual disability, moderate Joint hyperflexibility EEG abnormality Thin vermilion border Epicanthus Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Talipes equinovarus Febrile seizures Esotropia Sleep disturbance Short foot Highly arched eyebrow Everted lower lip vermilion Small hand Inguinal hernia Thick lower lip vermilion Restlessness Pes planus Hyperhidrosis Open mouth Joint laxity Protruding ear Long face Convex nasal ridge Broad-based gait Hypoplasia of penis Finger syndactyly Narrow nose Atrial septal defect Hydronephrosis Hip dislocation Abnormal heart morphology Hernia Dolichocephaly Iris coloboma Single transverse palmar crease Short neck Anteverted ears Cleft palate Abnormality of the skeletal system Hypertonia Abnormality of digit Sparse hair Neurological speech impairment Hearing impairment Toe syndactyly Smooth philtrum Tented upper lip vermilion Widely spaced teeth Sandal gap Wide nose Fine hair Long eyelashes Coloboma Generalized hirsutism Supernumerary nipple Tetraplegia Generalized myoclonic seizures Hypertrichosis Postnatal microcephaly Scoliosis Abnormality of the dentition Low anterior hairline Dystonia Dysphasia Polymicrogyria Cortical dysplasia Self-injurious behavior Ataxia Macrotia Blepharophimosis Abnormality of the pinna Motor delay Malar flattening Hypogonadism Failure to thrive Obesity Myopia Stereotypy Microcornea Flexion contracture Feeding difficulties Nystagmus Strabismus Overbite Happy demeanor Generalized osteoporosis Pes valgus Excessive salivation Toe clinodactyly Large beaked nose Median cleft palate Conical tooth Dacryocystitis Incomprehensible speech Narrow maxilla Conspicuously happy disposition Narrow jaw Sensorineural hearing impairment Congestive heart failure Intellectual disability, mild Dilatation Patent ductus arteriosus Agenesis of corpus callosum Cerebellar hypoplasia Cleft soft palate Encephalopathy Broad hallux phalanx Short palpebral fissure Malignant hyperthermia Camptodactyly Attention deficit hyperactivity disorder Abnormality of the cerebral white matter Abnormality of the foot Poor speech Underdeveloped supraorbital ridges Talipes Arachnodactyly Congenital hypothyroidism Ectodermal dysplasia Dental malocclusion Nail dysplasia Narrow forehead Hemiparesis Short columella Overlapping toe Self-mutilation Abnormality of the periventricular white matter Tapered finger Long nose Myopathic facies Telecanthus Abnormality of dental morphology Thin skin Dermal atrophy Oligodontia Drooling Microretrognathia Broad thumb Round face Bilateral talipes equinovarus Abnormal palate morphology Mental deterioration Truncal obesity Macroglossia Memory impairment Interphalangeal joint contracture of finger Intention tremor Short thumb Gynecomastia Narrow palpebral fissure Acanthosis nigricans Cachexia Cubitus valgus Large hands Open bite Cortical gyral simplification Abnormality of the musculature Delayed puberty Cerebellar vermis atrophy Biparietal narrowing Striae distensae Scaphocephaly Down-sloping shoulders Distal lower limb amyotrophy Abnormal hair pattern Tics Panhypopituitarism Abdominal obesity Abnormality of earlobe Small earlobe Mood swings Moderately short stature Joint hypermobility Camptodactyly of finger Corneal opacity Hypoplasia of teeth Renal agenesis Progressive visual loss Bilateral sensorineural hearing impairment Short toe Aortic regurgitation Osteopenia Aplasia/Hypoplasia of the corpus callosum Genu varum Aortic aneurysm Chorioretinal coloboma Unilateral renal agenesis Bowing of the legs Congenital nystagmus Neurogenic bladder Profound global developmental delay Mandibular prognathia Colpocephaly Short upper lip Lens luxation Lop ear Scleral staphyloma Short 2nd toe Posterior staphyloma Skeletal muscle atrophy Tremor Gait disturbance Kyphosis Immunodeficiency Hypospadias Pes cavus Anxiety Frontal hirsutism Narrow mouth Abnormality of the antihelix Short attention span Macrodontia Hemifacial hypoplasia Paroxysmal bursts of laughter Abnormality of lower lip Kyphoscoliosis Cognitive impairment Peripheral neuropathy Bipolar affective disorder Abnormality of cardiovascular system morphology Schizophrenia Thin fingernail Narrow foot Acrocyanosis Cupped ear Abnormality of the skull Decreased muscle mass Hemiplegia/hemiparesis Abnormality of the metacarpal bones Arnold-Chiari malformation Webbed neck Hypotelorism Wide anterior fontanel Holoprosencephaly Abnormal dermatoglyphics Deep philtrum Patent foramen ovale Trigonocephaly Polyphagia Language impairment Aplasia/Hypoplasia of the thumb Labial hypoplasia Vomiting Gastroesophageal reflux Retrognathia Fever Feeding difficulties in infancy Autistic behavior Microtia Hypermetropia Frontoparietal polymicrogyria Astigmatism Hypoplastic labia minora Shallow anterior chamber Clitoral hypoplasia Ankle clonus Focal impaired awareness seizure External genital hypoplasia Spastic diplegia Scrotal hypoplasia Narrow palate Focal-onset seizure Hip dysplasia Epileptic encephalopathy Cerebellar vermis hypoplasia Spastic tetraplegia Absence seizures Peripheral axonal neuropathy Congenital cataract Infantile muscular hypotonia Absent septum pellucidum Abnormality of the gastrointestinal tract Congenital stationary night blindness Narrow naris Mutism Short middle phalanx of finger Aphasia Narrow nasal bridge Cutaneous finger syndactyly Limb dystonia Limb hypertonia Low hanging columella High anterior hairline Echolalia Broad columella Cutaneous syndactyly of toes Congenital microcephaly Aplastic/hypoplastic toenail Bilateral single transverse palmar creases Clinodactyly of the 5th toe Enlarged epiphyses Constipation 2-4 toe syndactyly Hyperreflexia Multifocal cerebral white matter abnormalities Large fleshy ears Anteverted nares Midface retrusion Horizontal eyebrow Abnormality of brain morphology Posteriorly rotated ears Osteoporosis Cutaneous syndactyly Decreased body weight Thickened helices Proptosis Retinoblastoma Apraxia Leukocoria Abnormality of movement Arthrogryposis multiplex congenita Joint stiffness Cerebellar atrophy Developmental regression Syndactyly Delayed skeletal maturation Severe short stature Prominent forehead Polydactyly Arrhythmia Muscle weakness Depressivity Small for gestational age Paraplegia Respiratory insufficiency Hirsutism Hepatomegaly Hypodontia Limitation of joint mobility Underdeveloped nasal alae Specific learning disability Microdontia Ambiguous genitalia Small nail Abnormality of toe


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