Global developmental delay, and Macroglossia

Diseases related with Global developmental delay and Macroglossia

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

Top matches:

GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 Is also known as hyperphosphatasia with mental retardation syndrome 5|hpmrs5

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

Medium match ATHYREOSIS

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about ATHYREOSIS

Medium match THYROID HYPOPLASIA

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about THYROID HYPOPLASIA

Other less relevant matches:

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Medium match THYROID ECTOPIA

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

FAMILIAL THYROID DYSHORMONOGENESIS Is also known as iodine accumulation, transport, or trapping defect|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL THYROID DYSHORMONOGENESIS

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Top 5 symptoms//phenotypes associated to Global developmental delay and Macroglossia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Abnormality of the face Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypothyroidism Constipation Intellectual disability Large fontanelles Generalized hypotonia Abdominal distention Umbilical hernia Hypersomnia Hearing impairment Jaundice Feeding difficulties Fatigue Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Ectopic thyroid Elevated serum creatine phosphokinase Sensorineural hearing impairment Kyphosis Dysphagia Limb muscle weakness Thyroid agenesis Wide nasal bridge Motor delay Abnormal facial shape Muscle weakness Abnormal electroretinogram Elbow flexion contracture Horizontal nystagmus Joint contracture of the hand Pachygyria Open mouth Intellectual disability, profound Waddling gait Lower limb muscle weakness Abnormality of the cerebral white matter Facial palsy Muscular dystrophy Externally rotated hips Proximal muscle weakness Nystagmus Strabismus Flexion contracture Cerebellar hypoplasia Babinski sign Cerebellar atrophy Myopia Ventriculomegaly EMG: myopathic abnormalities Cognitive impairment Gowers sign Respiratory insufficiency Increased muscle glycogen content Diaphragmatic weakness Abnormality of refraction Bowel incontinence Progressive muscle weakness Left ventricular hypertrophy Cardiomegaly Urinary incontinence Hypertrophic cardiomyopathy Gastroesophageal reflux Arrhythmia Dilatation Hepatomegaly Congenital muscular dystrophy Bulbar signs Failure to thrive Mild myopia Cerebellar cyst Decreased light- and dark-adapted electroretinogram amplitude Achilles tendon contracture Abnormality of the periventricular white matter Lower limb hyperreflexia Myopathic facies Abnormality of neuronal migration Skeletal muscle hypertrophy Hypoplasia of the brainstem Achalasia Dystonia Hypoplastic scapulae Synophrys Deep philtrum Gingival overgrowth Long eyelashes Hypertrichosis Depressed nasal ridge Small nail Underdeveloped nasal alae Thick vermilion border Hirsutism Thick eyebrow Joint hypermobility Upslanted palpebral fissure Widow's peak Short neck Abnormality of the thyroid gland Large posterior fontanelle Prolonged neonatal jaundice Sleep disturbance Thyroid hypoplasia Epileptic spasms Elevated alkaline phosphatase Tented upper lip vermilion Hypsarrhythmia Neonatal hypotonia Absent speech Anonychia Bifid nasal tip Mild global developmental delay Seizures Generalized dystonia Neurodegeneration Cleft upper lip Oral cleft Micromelia Small for gestational age Mental deterioration Cleft lip Kyphoscoliosis High forehead Immunodeficiency Intellectual disability, mild Blindness Broad eyebrow Abnormality of the skeletal system Cataract Cleft palate Hypertelorism Scoliosis Congenital hypothyroidism Goiter Oligodontia Dry skin Lethargy Neoplasm Prominent nasal septum Abnormality of lysosomal metabolism


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