Intellectual disability, and Short palm

Diseases related with Intellectual disability and Short palm

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

High match EIKEN SYNDROME

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.

EIKEN SYNDROME Is also known as bone modeling defect of hands and feet|eiken skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Severe short stature
  • Skeletal dysplasia
  • Arthralgia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EIKEN SYNDROME

High match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Other less relevant matches:

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

BRACHYDACTYLY TYPE A1 Is also known as farabee-type brachydactyly|brachydactyly, farabee type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE A1

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1|opd i syndrome|taybi syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 1

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Top 5 symptoms//phenotypes associated to Intellectual disability and Short palm

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Short foot Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Short palm. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Broad palm Absent speech Generalized hypotonia Coarse facial features Hearing impairment

Rare Symptoms - Less than 30% cases

Micropenis Delayed speech and language development Cryptorchidism Cognitive impairment Abnormal facial shape Short distal phalanx of finger Strabismus Brachydactyly Microcephaly Scoliosis Low-set ears Macrocephaly Thick vermilion border Pectus excavatum Upslanted palpebral fissure Tapered finger Short nose Microphthalmia Micrognathia Short thumb Hypoplasia of the corpus callosum Short hallux Wide mouth Cleft palate Anteverted nares Depressed nasal bridge Skeletal dysplasia Wide nasal bridge Downslanted palpebral fissures Intellectual disability, severe Broad forehead Small hand Inability to walk Prominent supraorbital ridges Cerebellar hypoplasia Cerebellar atrophy Everted lower lip vermilion Macroorchidism Tented upper lip vermilion Uplifted earlobe Dental crowding Open mouth Joint hypermobility Abnormality of skin pigmentation Broad nasal tip Impulsivity Anodontia Synophrys Thickened calvaria Aplasia of the inferior half of the cerebellar vermis Limitation of joint mobility Bowing of the long bones Increased bone mineral density Sandal gap Oligodontia Abnormality of the metacarpal bones Elbow dislocation Proximal placement of thumb Synostosis of carpal bones Autistic behavior Hypoplastic frontal sinuses Abnormal vertebral segmentation and fusion Abnormality of the tarsal bones Obesity Depressivity Hyperactivity Autism Mandibular prognathia Macrotia Intellectual disability, moderate Maxillary lateral incisor microdontia Gastroesophageal reflux Muscular hypotonia Narrow mouth Bruxism Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Motor delay Epicanthus Short neck Midface retrusion Hypospadias Posteriorly rotated ears Osteopenia Poor eye contact Pes planus Low-set, posteriorly rotated ears Abnormality of the pinna Blepharophimosis Microtia Carious teeth Flat face Microcornea Wide intermamillary distance Microdontia Short palpebral fissure Scrotal hypoplasia Overfolded helix Broad neck Hyperventilation Infantile spasms High palate Sleep disturbance Blindness Cerebral atrophy Encephalopathy Constipation Myoclonus Prominent forehead Respiratory failure Abnormality of the neck Kyphoscoliosis EEG abnormality Deeply set eye Developmental regression Severe global developmental delay Generalized myoclonic seizures Loss of consciousness Delayed myelination Focal-onset seizure Epileptic encephalopathy Sloping forehead Apraxia Intellectual disability, profound Hypsarrhythmia Thick lower lip vermilion Tetraparesis Postnatal microcephaly Stereotypy Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Atrophy of the dentate nucleus Kyphosis Thoracic kyphosis Cutaneous syndactyly Dilatation Clinodactyly Patent ductus arteriosus Abnormal heart morphology Abdominal pain Pulmonic stenosis Recurrent fractures Specific learning disability Decreased body weight Finger clinodactyly Aortic regurgitation Bicuspid aortic valve Renal insufficiency Increased susceptibility to fractures Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Talipes equinovarus Clinodactyly of the 5th finger Syndactyly Cardiomyopathy Cone-shaped epiphysis Delayed epiphyseal ossification Ventriculomegaly Polymicrogyria Severe short stature Arthralgia Short phalanx of finger Short toe Epiphyseal dysplasia Cubitus valgus Metaphyseal irregularity Fibular hypoplasia Broad foot Thin bony cortex Ventricular septal defect Narrow pelvis bone Abnormal bone ossification Absence of the sacrum Limited hip movement Abnormality of the acetabulum High iliac wings Limited elbow flexion Abnormality of the fingertips Abnormal trabecular bone morphology Failure to thrive Pain Hypertension Short metacarpal Short middle phalanx of finger Thoracic scoliosis Hyporeflexia Metaphyseal chondrodysplasia Severe platyspondyly Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hypoplasia of the calcaneus Ataxia Sensorineural hearing impairment Dysarthria Tremor Gait ataxia Decreased skull ossification Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Intention tremor Heterotopia Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis Global brain atrophy Cortical dysplasia 11 pairs of ribs Hypoplastic iliac wing Hypoplasia of the ulna Radial deviation of the 3rd finger Ankylosis Distal symphalangism of hands Broad metacarpals Absent distal interphalangeal creases Radial deviation of the 2nd finger Short proximal phalanx of thumb Short proximal phalanx of hallux Slender metacarpals Flattened metatarsal heads Type A1 brachydactyly Radial deviation of the 4th finger Broad metacarpal epiphyses Thin ribs Proportionate shortening of all digits Thin proximal phalanges with broad epiphyses of the hand Growth delay Intrauterine growth retardation Frontal bossing Abnormality of the skeletal system Hydrocephalus Hyperkeratosis Short philtrum Platyspondyly Depressed nasal ridge Rhizomelia Ureterocele


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