Intellectual disability, severe, and Short palpebral fissure

Diseases related with Intellectual disability, severe and Short palpebral fissure

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Short palpebral fissure that can help you solving undiagnosed cases.

Top matches:

OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Other less relevant matches:

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER 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

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Motor delay
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 3; AOS3

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Short palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Long philtrum Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Short palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Motor delay

Common Symptoms - More than 50% cases

Ptosis

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Anteverted nares Hypertelorism Feeding difficulties Brachycephaly Muscular hypotonia Agenesis of corpus callosum Micrognathia Failure to thrive Ventriculomegaly Postnatal growth retardation Smooth philtrum Thin upper lip vermilion Absent speech Severe short stature Abnormality of the pinna Epicanthus High palate Flexion contracture Cleft palate Thin vermilion border Posteriorly rotated ears Wide nose Inguinal hernia Aggressive behavior Retrognathia Blepharophimosis Short palm Bifid uvula Wide intermamillary distance Thick eyebrow Poor speech Wide nasal bridge Microphthalmia Wide mouth Intrauterine growth retardation Hyperactivity Brachydactyly Scoliosis Retinal coloboma Osteoporosis Arthrogryposis multiplex congenita Cerebral cortical atrophy Short metatarsal Micropenis Abnormal heart morphology Narrow mouth Highly arched eyebrow High, narrow palate Camptodactyly Hypoplasia of the corpus callosum Deeply set eye Ventricular septal defect Hernia Short nose Spasticity Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Dilatation Atrial septal defect Midface retrusion Short neck Myopia Hearing impairment Self-mutilation Short columella Protruding tongue Overfolded helix Downturned corners of mouth Narrow palpebral fissure Low anterior hairline Long eyelashes Broad-based gait Specific learning disability Short metacarpal Everted lower lip vermilion Inability to walk Sparse hair Heterotopia Coarse facial features Autism Abnormality of cardiovascular system morphology Drooling Mandibular prognathia Facial hypertrichosis Strabismus Multicystic kidney dysplasia Wide anterior fontanel Arachnodactyly Talipes Restlessness Attention deficit hyperactivity disorder Hydronephrosis Polyhydramnios Pectus excavatum Hypospadias Hydrocephalus Talipes equinovarus Macrocephaly Conductive hearing impairment Frontal bossing Congenital ptosis Clinodactyly of the 5th finger Abnormality of the sternum Joint laxity Webbed neck Iris coloboma Cleft upper lip Broad forehead Joint stiffness Feeding difficulties in infancy Cleft lip Downslanted palpebral fissures Syndactyly Renal hypoplasia/aplasia Muscular hypotonia of the trunk Cataract Hypertrichosis Short philtrum Protruding ear Convex nasal ridge Glaucoma Brain atrophy Hyperreflexia Microcornea Optic atrophy Postnatal microcephaly Cerebral atrophy Cerebellar hypoplasia Prominent forehead Corneal opacity Upslanted palpebral fissure Coloboma Dystonia Kyphoscoliosis Macrotia Pachygyria Visual impairment Delayed speech and language development Small for gestational age Absence seizures Long nose Overlapping toe Widely spaced teeth Microretrognathia Round face Ectodermal dysplasia Prominent nose Sleep disturbance Nail dysplasia Waddling gait Febrile seizures Bulbous nose Decreased testicular size Long face Small hand Dental malocclusion Tremor Intellectual disability, profound Facial asymmetry Fine hair Dextrocardia Hemiparesis Metatarsus adductus Mask-like facies Thin skin Microtia, second degree Hypoplasia of the brainstem Myotonia Congenital contracture Broad thumb Dental crowding Radioulnar synostosis Joint hyperflexibility Aplasia cutis congenita Abnormality of the foot Aplasia/Hypoplasia involving the skeletal musculature Epispadias Short distal phalanx of finger Kinetic tremor Limb joint contracture Abnormality of the cerebellar vermis Hand tremor Narrow palate Abnormality of the penis Primitive reflex Abnormality of the upper urinary tract Colpocephaly Zollinger-Ellison syndrome Inferior vermis hypoplasia Fixed facial expression Abnormality of the cerebral white matter Abnormal anatomic location of the heart Distal arthrogryposis Abnormality of the dentition Behavioral abnormality Malar flattening Submucous cleft hard palate Hyperhidrosis High forehead Absent septum pellucidum Decreased muscle mass Osteopenia Anxiety 2-3 toe syndactyly Prominent nasal bridge Hydroureter Biliary tract abnormality Oligodontia Decreased body weight Intellectual disability, progressive Hemivertebrae Short toe Exaggerated cupid's bow Birth length less than 3rd percentile Preauricular skin tag Rhizomelia Decreased fetal movement Rieger anomaly Limb undergrowth Single transverse palmar crease Short foot Micromelia Hypoplasia of the vagina Anal atresia Pulmonic stenosis Mesomelic short stature Clitoral hypoplasia Abnormal cardiac septum morphology Hypoplasia of the uterus Peters anomaly Anterior hypopituitarism Communicating hydrocephalus Hypoplastic labia majora Diastasis recti Stenosis of the external auditory canal Broad neck Abnormality of the pulmonary artery Spina bifida occulta Blurred vision Preauricular pit Proximal placement of thumb Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Limited elbow movement Aplasia/Hypoplasia of the corpus callosum Sacral dimple Toe syndactyly Short lingual frenulum Tented upper lip vermilion Bilobate gallbladder Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Anterior chamber synechiae Narrow nose Happy demeanor Abnormality of the periventricular white matter Abnormality of digit Myopathic facies Bilateral talipes equinovarus Abnormality of dental morphology Dermal atrophy Ureteral duplication Relative macrocephaly Pes valgus Toe clinodactyly Craniosynostosis Aplasia/hypoplasia of the extremities Low-set, posteriorly rotated ears Umbilical hernia Conical incisor Hypothyroidism Pes cavus Clinodactyly Pyloric stenosis Square pelvis bone Median cleft palate Nystagmus Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Intestinal fistula Dacryocystitis Large beaked nose Agenesis of maxillary lateral incisor Depressed nasal tip Abnormality of the urinary system Hypotrichosis Broad nasal tip Triangular face Polydactyly Apnea Retinopathy Synophrys Postaxial polydactyly Eczema Autistic behavior Intestinal malrotation Alopecia Delayed skeletal maturation Obesity Oculomotor apraxia Molar tooth sign on MRI Full cheeks Status epilepticus Teratoma Cone-shaped epiphysis Abnormality of finger Epileptic spasms Narrow nasal bridge Dysphasia Aphasia Absent eyebrow Abnormality of the metacarpal bones Thick lower lip vermilion Mutism Sandal gap Accelerated skeletal maturation Joint dislocation Abnormality of epiphysis morphology Short phalanx of finger Sparse scalp hair Hamartoma Microphakia Abnormal hair pattern Telecanthus Joint hypermobility Congenital cataract Sacrococcygeal teratoma Severe global developmental delay Neonatal hypotonia Hypogonadism Hypertonia Tetraplegia Cerebellar atrophy Muscle weakness Long upper lip Prominent nasal tip Bruxism Prominent metopic ridge Partial agenesis of the corpus callosum Polymicrogyria Delayed myelination Posterior synechiae of the anterior chamber Cortical dysplasia Posterior uveitis Hyperglycinuria Anteverted ears Abnormal pupil morphology Hamartoma of tongue Enlarged cisterna magna External genital hypoplasia Neurodevelopmental delay Tetraparesis Spastic diplegia Bilateral cryptorchidism Hyperextensible skin Cerebral palsy Spastic tetraparesis Cerebral visual impairment Progressive muscle weakness Echolalia Abnormality of the testis Joint contracture of the hand U-Shaped upper lip vermilion Small posterior fossa Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence Facial edema Widow's peak Myopathy Neurological speech impairment Acute lymphoblastic leukemia Inverted nipples Esophageal atresia Long palpebral fissure Tracheoesophageal fistula Chorioretinal coloboma Skeletal muscle atrophy Kyphosis Trigonocephaly Peripheral demyelination Situs inversus totalis Abnormality of the face Renal dysplasia Abnormal form of the vertebral bodies Renal hypoplasia Interphalangeal joint contracture of finger Dandy-Walker malformation Areflexia Renal agenesis Pulmonary hypoplasia Muscular dystrophy Pectus carinatum Camptodactyly of finger Respiratory tract infection Abnormality of the kidney Ectropion Bilateral ptosis Broad philtrum Curly eyelashes Abnormality of the skeletal system Sensorineural hearing impairment Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Clubbing of toes Abnormality of metabolism/homeostasis Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Eclabion Wide nasal base Broad columella Enlarged joints Edema Patent ductus arteriosus Redundant skin Low posterior hairline Abnormality of the outer ear Bicuspid aortic valve Lissencephaly Spontaneous abortion Pointed chin Hoarse voice Aortic valve stenosis High myopia Cognitive impairment Lymphoma Thick vermilion border Oral cleft Leukemia Microtia Ataxia Weight loss Absent toe


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