Global developmental delay, and Wide mouth

Diseases related with Global developmental delay and Wide mouth

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Top 5 symptoms//phenotypes associated to Global developmental delay and Wide mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Delayed speech and language development Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Aggressive behavior Deeply set eye Thick vermilion border Autistic behavior Obesity Feeding difficulties

Rare Symptoms - Less than 30% cases

Autism Wide nasal bridge Upslanted palpebral fissure Triangular face Prominent forehead Microcephaly High palate Epicanthus Short stature Absent speech Poor speech Depressed nasal bridge Short nose Macrocephaly Intellectual disability, mild Behavioral abnormality Ptosis Low-set ears Myopia Astigmatism Pulmonic stenosis Micrognathia Abnormality of the sternum Webbed neck Widely spaced teeth Hypertrophic cardiomyopathy Mandibular prognathia Arrhythmia Joint hypermobility Short neck Downslanted palpebral fissures Decreased body weight Atrial septal defect Shyness Broad nasal tip Rigidity Stuttering Hydranencephaly Cogwheel rigidity Focal dystonia Limb dystonia Infantile spasms Lissencephaly Lower limb spasticity Short palpebral fissure Intellectual disability, moderate EEG abnormality Full cheeks Dystonia Tremor Dysarthria Flexion contracture Cognitive impairment Spasticity Abnormal eating behavior Long ear Self-mutilation Self-injurious behavior Abnormality of vision Broad-based gait Downturned corners of mouth Wide nose Coarse facial features Febrile seizures Prominent nasal bridge Gastroesophageal reflux Encephalopathy Cerebral atrophy Growth delay Short palm Polymicrogyria Micropenis Thin eyebrow Anteverted nares Ventriculomegaly Cryptorchidism Mood swings Esophagitis Hearing impairment Neonatal hypotonia Brachycephaly Epileptic encephalopathy Motor delay Short philtrum Pointed chin Anxiety Severe short stature Malar flattening Intellectual disability, severe Failure to thrive Scoliosis Sandal gap Narrow palpebral fissure Hyperactivity Macrotia Clinodactyly Long philtrum Strabismus Delayed ability to walk Incoordination Plagiocephaly Dental crowding Facial asymmetry Neurological speech impairment Grasp reflex


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