Global developmental delay, and Prominent forehead

Diseases related with Global developmental delay and Prominent forehead

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

Top matches:

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 99; MRX99

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Other less relevant matches:

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

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Prominent forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Nystagmus Microcephaly Poor speech Low-set ears Delayed speech and language development

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Epicanthus Obesity Delayed myelination Apraxia Thick vermilion border Delayed gross motor development Wide mouth Anxiety Deeply set eye Wide nasal bridge Osteopenia Platyspondyly Failure to thrive Hyperreflexia Decreased body weight Depressed nasal bridge Relative macrocephaly Aggressive behavior Ventriculomegaly Seizures Postaxial polydactyly Polydactyly EEG abnormality Dysmetria Unsteady gait Partial agenesis of the corpus callosum Abnormal cerebellum morphology Inability to walk Hip dysplasia Generalized-onset seizure Narrow forehead Status epilepticus Cerebral visual impairment Limb hypertonia Osteoporosis Gait ataxia Dilation of lateral ventricles Progressive spastic paraplegia Cerebellar hypoplasia Cerebellar atrophy Anteverted nares Tremor Optic atrophy Myopia Dysarthria Abnormal CNS myelination Visual impairment Cognitive impairment Spasticity Ataxia Infantile muscular hypotonia Cleft palate Brisk reflexes Flared metaphysis Muscular hypotonia of the trunk Polyhydramnios Reduced visual acuity Agenesis of corpus callosum Hypermetropia Cerebral atrophy Hypoplasia of the corpus callosum Craniofacial disproportion Paraplegia Astigmatism Advanced ossification of carpal bones Long upper lip Full cheeks Carpal synostosis Thoracolumbar kyphosis Spastic paraplegia Epiphyseal dysplasia Hyperextensible skin Esotropia Cutis laxa Blue sclerae Flat face Hip dislocation Sparse hair Kyphoscoliosis Proptosis Pectus excavatum Optic disc pallor Talipes equinovarus Plagiocephaly Hyposegmentation of neutrophil nuclei Large forehead Spondylometaphyseal dysplasia Aplasia/Hypoplasia of the corpus callosum Arrhythmia Atrial septal defect Short neck Ptosis Widely spaced teeth Broad-based gait Triangular face Wide nose Short philtrum Severe short stature Malar flattening Intellectual disability, severe Scoliosis Round face Hypertrophic cardiomyopathy Thin vermilion border Smooth philtrum Micrognathia Broad thumb Joint hypermobility Constipation Thick corpus callosum Frontoparietal polymicrogyria Perisylvian polymicrogyria Megalencephaly Postaxial hand polydactyly Polymicrogyria Absent speech Hydrocephalus Mandibular prognathia Pulmonic stenosis Ovoid vertebral bodies Language impairment Limited elbow extension Mild short stature Knee flexion contracture Rhizomelia Hyperlordosis Camptodactyly Skeletal dysplasia Kyphosis Ventricular septal defect Abnormality of the skeletal system Brachydactyly Flexion contracture Speech apraxia Delayed ability to walk Drooling Webbed neck Stereotypy Open mouth Broad nasal tip Broad forehead Attention deficit hyperactivity disorder Irritability Intellectual disability, moderate Retrognathia Autism Hyperactivity Short nose Behavioral abnormality Strabismus Abnormality of the sternum Esophoria


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