Intellectual disability, and Small hand

Diseases related with Intellectual disability and Small hand

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

Top matches:

NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT ) (summary by Yoo et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Macrocephaly
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

High match ACROGERIA

ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ACROGERIA

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Top 5 symptoms//phenotypes associated to Intellectual disability and Small hand

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Short foot Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Small hand. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hypotonia Absent speech High palate Growth delay Scoliosis Clinodactyly

Rare Symptoms - Less than 30% cases

Myopia Intellectual disability, severe Intrauterine growth retardation Muscular hypotonia Obesity Intellectual disability, mild Bruxism Severe global developmental delay Spasticity Dysarthria Micrognathia Cataract Tremor Delayed speech and language development Chorea Epicanthus Dystonia Dysphagia Poor speech Inability to walk Developmental regression High myopia Bradykinesia Deeply set eye Neonatal hypotonia Small for gestational age Cerebellar vermis atrophy Thin vermilion border Delayed skeletal maturation Bulbous nose Decreased testicular size Specific learning disability Gynecomastia Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Hypogonadism Slender finger Cryptorchidism Broad nasal tip Tetraparesis Narrow mouth Pes planus Thin upper lip vermilion Abnormality of the cerebral white matter Hypermetropia Prominent nose Failure to thrive Underdeveloped nasal alae Short palpebral fissure Postnatal microcephaly Sandal gap Overlapping toe Broad hallux Sparse body hair Truncal obesity Ankle clonus Increased circulating gonadotropin level Progressive cerebellar ataxia Syndactyly Encephalopathy Gait ataxia Toe syndactyly Dysmetria Tapered finger Pain Motor delay Dilated fourth ventricle Epileptic encephalopathy Generalized-onset seizure Narrow forehead Diplopia Cerebral visual impairment Incoordination Wide nasal bridge Visual impairment Decreased serum testosterone level Abnormal pyramidal sign Central hypotonia Abdominal obesity Primary testicular failure Ataxia Focal-onset seizure Ptosis Unsteady gait Muscular hypotonia of the trunk Cognitive impairment Low-set ears Cerebral atrophy Spastic tetraparesis Kyphosis Cerebellar atrophy Feeding difficulties Upslanted palpebral fissure Focal impaired awareness seizure Fine hair Abnormality of the skeletal system Hypertonia Self-injurious behavior Agitation Hyperventilation Developmental stagnation Breathing dysregulation Hypoplasia of the corpus callosum Arthrogryposis multiplex congenita Sleep disturbance Polymicrogyria Tetraplegia Spastic tetraplegia Akinesia Cortical dysplasia Severe intrauterine growth retardation Fetal akinesia sequence Abnormal autonomic nervous system physiology Generalized tonic-clonic seizures Short nose Waddling gait Long philtrum Mandibular prognathia Macrotia Aggressive behavior Blepharophimosis Thick eyebrow High, narrow palate Narrow palate Apnea Narrow palpebral fissure Self-mutilation Hand tremor Kinetic tremor Macrocephaly Gait disturbance Ventriculomegaly Perisylvian polymicrogyria Low posterior hairline Strabismus Lipoatrophy Joint hypermobility Abnormality of the skin Convex nasal ridge Thin skin Skin ulcer Dermal atrophy Aplasia/Hypoplasia of the skin Skeletal dysplasia Telangiectasia of the skin Prematurely aged appearance Irregular hyperpigmentation Premature skin wrinkling Excessive wrinkled skin Cigarette-paper scars Hypertelorism Joint hyperflexibility Enuresis nocturna Severe muscular hypotonia Hypsarrhythmia Cubitus valgus Short 5th finger Macrodontia Brachydactyly Babinski sign Facial asymmetry Short metacarpal Paraparesis Oval face Short chin Spastic paraparesis Nasal speech Cone-shaped epiphysis Infantile spasms Epileptic spasms Enuresis Caudate atrophy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Spina bifida, related diseases and genetic alterations Dysarthria and Hypopigmentation of the skin, related diseases and genetic alterations Skeletal muscle atrophy and Narrow chest, related diseases and genetic alterations Cataract and Dementia, related diseases and genetic alterations Microcephaly and Mandibular prognathia, related diseases and genetic alterations Global developmental delay and Cerebral cortical atrophy, related diseases and genetic alterations