Global developmental delay, and Small hand

Diseases related with Global developmental delay and Small hand

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

Top matches:

ACHROMATOPSIA 3; ACHM3 Is also known as total colorblindness with myopia|rod monochromatism 1, formerly|achm1, formerly|rod monochromacy 1, formerly|rmch1, formerly|pingelapese blindness|achromatopsia with myopia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia


SOURCES: OMIM MENDELIAN

More info about ACHROMATOPSIA 3; ACHM3

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

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Top 5 symptoms//phenotypes associated to Global developmental delay and Small hand

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Small hand. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short foot Growth delay Microcephaly Generalized hypotonia Spasticity Intrauterine growth retardation Myopia Clinodactyly High palate

Rare Symptoms - Less than 30% cases

Epicanthus Chorea High myopia Micrognathia Delayed speech and language development Muscular hypotonia Scoliosis Prominent nose Intellectual disability, mild Dysarthria Cataract Severe global developmental delay Obesity Tremor Intellectual disability, severe Poor speech Syndactyly Encephalopathy Wide nasal bridge Gait ataxia Motor delay Toe syndactyly Dysmetria Visual impairment Cognitive impairment Tapered finger Round face Low-set ears Premature ovarian insufficiency Neonatal hypotonia Small for gestational age Thin vermilion border Bulbous nose Decreased testicular size Specific learning disability Gynecomastia Hypergonadotropic hypogonadism High pitched voice Ptosis Restrictive cardiomyopathy Truncal obesity Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Ataxia Progressive cerebellar ataxia Diplopia Epileptic encephalopathy Bruxism Focal-onset seizure Bradykinesia Tetraparesis Spastic tetraparesis Focal impaired awareness seizure Ankle clonus Central hypotonia Caudate atrophy Abnormal pyramidal sign Mild short stature Cardiomyopathy Sloping forehead Pneumonia Cerebellar hypoplasia Agenesis of corpus callosum Severe short stature Unsteady gait Developmental regression Generalized-onset seizure Pain Narrow forehead Craniosynostosis Hypogonadism Cerebral visual impairment Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Feeding difficulties Muscular hypotonia of the trunk Dysphagia Cerebellar atrophy Dystonia Kyphosis Cerebral atrophy Partial agenesis of the corpus callosum Cortical gyral simplification Deeply set eye Thin upper lip vermilion Delayed skeletal maturation Hypertonia Narrow palate Narrow palpebral fissure Self-mutilation Hand tremor Kinetic tremor Hypoplasia of the corpus callosum Arthrogryposis multiplex congenita High, narrow palate Polymicrogyria Tetraplegia Spastic tetraplegia Akinesia Cortical dysplasia Severe intrauterine growth retardation Fetal akinesia sequence Waddling gait Inability to walk Short nose Tapetoretinal degeneration Nystagmus Blindness Photophobia Severe vision loss Dyschromatopsia Hypoplasia of the fovea Pendular nystagmus Achromatopsia Thick eyebrow Monochromacy Horizontal pendular nystagmus Long philtrum Mandibular prognathia Macrotia Aggressive behavior Blepharophimosis Perisylvian polymicrogyria Low posterior hairline Cryptorchidism Broad nasal tip Abnormality of the skeletal system Upslanted palpebral fissure Narrow mouth Pes planus Abnormality of the cerebral white matter Hypermetropia Underdeveloped nasal alae Hypertelorism Short palpebral fissure Postnatal microcephaly Sandal gap Overlapping toe Broad hallux Slender finger Failure to thrive Strabismus 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 Metaphyseal sclerosis


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