Intellectual disability, severe, and Arachnodactyly

Diseases related with Intellectual disability, severe and Arachnodactyly

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

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

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Arachnodactyly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
High palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Narrow mouth Talipes equinovarus Delayed speech and language development Hearing impairment Growth delay Failure to thrive Wide nasal bridge Intrauterine growth retardation Downslanted palpebral fissures Short stature Cleft palate Long philtrum Long face Macrotia Epicanthus Protruding ear Intellectual disability, mild Feeding difficulties Flexion contracture Cryptorchidism Malar flattening Hypospadias Camptodactyly Ptosis High, narrow palate Prominent nasal bridge Pectus excavatum High forehead Highly arched eyebrow Low-set ears Nystagmus Skeletal muscle atrophy Ventriculomegaly Hypoplasia of the corpus callosum Brachycephaly Autism Thin upper lip vermilion Broad forehead Attention deficit hyperactivity disorder Spasticity Posteriorly rotated ears Postnatal growth retardation Aggressive behavior Joint contracture of the hand Hyperactivity Nasal speech Depressed nasal bridge Microphthalmia Iris coloboma Narrow face Hypoplasia of the maxilla Convex nasal ridge Kyphosis Inguinal hernia Motor delay Hyperreflexia Hernia Absent speech Short philtrum Anteverted nares Frontal bossing Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases

Conspicuously happy disposition Congenital contracture Low posterior hairline Camptodactyly of finger Facial asymmetry Abnormality of the thorax Osteoporosis Dental crowding Narrow foot Downturned corners of mouth Abnormality of the urinary system Polyhydramnios Short thumb Abnormality of the genital system Dandy-Walker malformation Abnormality of digit Underdeveloped nasal alae Abnormality of the kidney Sleep disturbance Bilateral single transverse palmar creases Recurrent infections Abnormal form of the vertebral bodies Sclerocornea Low-set, posteriorly rotated ears Short palm Thin skin Obesity Recurrent respiratory infections Proptosis Interphalangeal joint contracture of finger Short palpebral fissure Narrow nose Asthma Toe clinodactyly Congenital diaphragmatic hernia High anterior hairline Wide nose Macrocephaly Thin vermilion border Smooth philtrum Fine hair Talipes Joint hyperflexibility Short nose Tapered finger Triangular face Abnormality of metabolism/homeostasis Broad-based gait Bulbous nose Abnormality of movement Poor speech Prominent nose Decreased testicular size Brachydactyly Renal hypoplasia Cerebellar hypoplasia Situs inversus totalis Atrial septal defect Sparse hair Abnormality of the immune system Restlessness Cataract Ataxia Prominent forehead Mandibular prognathia Pectus carinatum Cupped ear Mild short stature Abnormality of the sternum Ventricular septal defect Hypermetropia Joint stiffness Microretrognathia Blepharophimosis Micropenis Hydronephrosis Behavioral abnormality Joint laxity Long nose Overlapping toe Clinodactyly of the 5th finger Sacral dimple Long eyelashes Broad thumb Hypoplasia of the brainstem Pes cavus Abnormality of the foot Agenesis of corpus callosum Abnormal cardiac septum morphology Autistic behavior Abnormality of the pinna Retrognathia Abnormal heart morphology Severe short stature Short neck Upslanted palpebral fissure Anxiety Colpocephaly Absent septum pellucidum Hydroureter Distal arthrogryposis Decreased muscle mass Submucous cleft hard palate Dextrocardia Abnormality of the rib cage Metatarsus adductus Kyphoscoliosis Heterotaxy Thin eyebrow Broad columella Anteverted ears Macrodontia Moderately short stature Phimosis Round ear Decreased head circumference Abnormal hair laboratory examination Hydrocephalus Myopathy Areflexia Primitive reflex Respiratory tract infection Mask-like facies Abnormality of the face Myotonia Radioulnar synostosis Pyloric stenosis Renal hypoplasia/aplasia Multicystic kidney dysplasia Wide anterior fontanel Renal dysplasia Muscular dystrophy Peripheral demyelination Specific learning disability Renal agenesis Bifid uvula Pulmonary hypoplasia Arthrogryposis multiplex congenita Abnormality of the upper urinary tract Generalized osteoporosis Epispadias Single transverse palmar crease Pointed chin Hoarse voice Sparse and thin eyebrow Cafe-au-lait spot Open mouth Thick lower lip vermilion Small nail Growth hormone deficiency Delayed myelination Small hand Widely spaced teeth Polymicrogyria Toe syndactyly Severe global developmental delay Small for gestational age Developmental regression Feeding difficulties in infancy Muscular hypotonia of the trunk Deeply set eye Hypogonadism Sandal gap Abnormality of the outer ear Dilatation Unilateral cryptorchidism Medial flaring of the eyebrow Gastrointestinal atresia Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Deep plantar creases Thick nasal alae Abnormality of nervous system morphology Abnormality of the voice Wide nasal base Thick hair Intestinal atresia Microphallus Overlapping fingers Thick upper lip vermilion Insomnia Slender finger Radial deviation of finger Proximal placement of thumb Clinodactyly Immunodeficiency Limb joint contracture Hyperhidrosis Hemiparesis Intellectual disability, profound Febrile seizures Nail dysplasia Dental malocclusion Ectodermal dysplasia Thick eyebrow Abnormality of the cerebral white matter Osteopenia Midface retrusion Oligodontia Abnormality of the dentition Abnormal anatomic location of the heart Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Drooling Tented upper lip vermilion Hypertonia Excessive salivation Narrow jaw Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Happy demeanor Pes valgus Overbite Abnormality of the thumb Relative macrocephaly Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Myopathic facies Bilateral talipes equinovarus Abnormality of dental morphology Dermal atrophy Small face Decreased fetal movement Sparse lateral eyebrow Choanal stenosis Distal ulnar hypoplasia Camptodactyly of toe Ulnar bowing Long hallux Lateral clavicle hook Eclabion Hypoplastic scapulae Single umbilical artery Long metacarpals Abnormal eyebrow morphology Dislocated radial head Thin ribs Slender long bone Narrow nasal bridge Femoral bowing Hallux valgus Stridor Glenoid fossa hypoplasia Slender metacarpals Knee flexion contracture Erythema Hirsutism Dry skin Genu valgum Carious teeth Pruritus Papule Skin rash Elevated hepatic transaminase Anemia Hepatosplenomegaly Hyperkeratosis Thrombocytopenia Splenomegaly Diarrhea Vomiting Hepatomegaly Visual impairment Laryngomalacia Elbow flexion contracture Dehydration Cerebellar atrophy Dysmetria Abnormality of the eye Intellectual disability, moderate Neonatal hypotonia Pes planus Gait ataxia Babinski sign Gait disturbance Intention tremor Tremor Dysarthria Cognitive impairment Slender build Long foot Abnormality of the musculature Growth abnormality Narrow chest Progressive cerebellar ataxia Pachygyria Cardiac arrest Spastic tetraplegia Bowing of the long bones Ambiguous genitalia Everted lower lip vermilion Craniosynostosis Respiratory distress Abnormality of the skeletal system Long palpebral fissure Flat occiput Tetraplegia Truncal ataxia Inability to walk Nonprogressive cerebellar ataxia Gaze-evoked nystagmus Cortical gyral simplification Toe walking Dysdiadochokinesis Abnormality of vision Cerebral palsy Palmoplantar keratoderma Hepatitis Ankylosis Abdominal situs inversus Rib segmentation abnormalities Abnormality of the gallbladder Abnormal lip morphology Abnormality of the philtrum Tethered cord Aplasia cutis congenita of scalp Aplasia/Hypoplasia of the nipples Rib fusion Sensorineural hearing impairment Short hallux Calvarial skull defect Aplasia/Hypoplasia of the lungs Abnormality of the mouth Megalocornea Abnormality of the vertebral column Abnormal heart valve morphology Disproportionate tall stature Hypoplastic pubic rami Blindness Aplasia/Hypoplasia of the cerebellum Abnormality of the hair Sprengel anomaly Prominent metopic ridge High hypermetropia Spastic diplegia Chorioretinal coloboma Failure to thrive in infancy Poor suck Cachexia Abnormality of the ribs Cerebral atrophy Tetralogy of Fallot Anal atresia Paraplegia Spastic paraplegia Coloboma Abnormality of the nervous system Diabetes mellitus Alopecia Preaxial hand polydactyly Chronic otitis media Cutaneous photosensitivity Abnormality of the fingernails Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Aplasia/Hypoplasia of the skin Recurrent pneumonia Low anterior hairline Skin ulcer Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Inflammatory abnormality of the skin Depressed nasal ridge Abnormality of the hip bone Prolonged neonatal jaundice Hemangioma Optic atrophy Abnormal vertebral morphology Split hand Hypodontia Cleft upper lip Dolichocephaly Microtia Retinopathy Delayed skeletal maturation Recurrent cystitis Hypoplasia of the zygomatic bone Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Abnormality of the proximal phalanx of the thumb


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