Generalized hypotonia, and Macroglossia

Diseases related with Generalized hypotonia and Macroglossia

In the following list you will find some of the most common rare diseases related to Generalized hypotonia 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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Other less relevant matches:

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

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

Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Macroglossia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Elevated serum creatine phosphokinase Muscular dystrophy Seizures Hypothyroidism Constipation Feeding difficulties Umbilical hernia Abnormal facial shape Congenital muscular dystrophy Cardiomyopathy Scoliosis

Rare Symptoms - Less than 30% cases

Limb-girdle muscular dystrophy Intellectual disability, severe Abdominal distention Growth hormone deficiency Congenital hypothyroidism Hoarse cry Delayed skeletal maturation Respiratory distress Bradycardia Myopia Flexion contracture Waddling gait Muscle weakness Cerebellar hypoplasia Proximal muscle weakness Facial palsy Congestive heart failure Microcephaly Myalgia Depressed nasal bridge Achilles tendon contracture Long eyelashes Kyphosis Sleep disturbance Large fontanelles Hirsutism Large posterior fontanelle Hearing impairment Thick eyebrow Growth delay Absent speech Hypertrichosis Wide nasal bridge Restrictive ventilatory defect Cataract Vertebral fusion Difficulty climbing stairs Calf muscle hypertrophy Difficulty running Toe walking Hypoplasia of the corpus callosum Shoulder girdle muscle weakness Severe global developmental delay Skeletal muscle atrophy Congenital cataract Scapular winging Difficulty walking Respiratory insufficiency Enlarged cisterna magna Generalized amyotrophy Respiratory failure Retinal dystrophy Kyphoscoliosis Inability to walk Restrictive deficit on pulmonary function testing Hyperlordosis Dilated cardiomyopathy Falls Muscle cramps Abnormal lung morphology Frequent falls Left ventricular failure Diaphragmatic weakness Pelvic girdle muscle weakness Sinus bradycardia Heart murmur Neonatal hypoglycemia Enlarged kidney Sparse scalp hair Dandy-Walker malformation Myoglobinuria Wide nose Mild myopia Pulmonary edema Wide mouth Biventricular hypertrophy Shortened PR interval Visual impairment Intrauterine growth retardation Anteverted nares Exercise intolerance Cyanosis Abnormality of cardiovascular system morphology Failure to thrive Nocturnal hypoventilation Exercise-induced myoglobinuria Abnormality of the Achilles tendon Thigh hypertrophy Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Aplasia/Hypoplasia of the distal phalanges of the hand Micrognathia Hypotension Hepatomegaly Thick nasal alae Myopathy Abnormal corpus callosum morphology Hypoglycemia Hypertrophic cardiomyopathy Ascites Cardiomegaly Abnormality of the cerebral white matter Cerebellar cyst Omphalocele Bifid nasal tip Broad eyebrow Prominent nasal septum Fatigue Abnormality of metabolism/homeostasis Jaundice Wide anterior fontanel Anonychia Intellectual disability, progressive Hypopituitarism Severe postnatal growth retardation Pituitary hypothyroidism Pseudohypoparathyroidism Narcolepsy Hypothalamic hypothyroidism Widow's peak Deep philtrum Carcinoma Sensorineural hearing impairment Neonatal hypotonia Hypsarrhythmia Tented upper lip vermilion Elevated alkaline phosphatase Epileptic spasms Abnormality of the face Prolonged neonatal jaundice Short neck Gingival overgrowth Upslanted palpebral fissure Synophrys Joint hypermobility Thick vermilion border Underdeveloped nasal alae Small nail Depressed nasal ridge Craniopharyngioma Feeding difficulties in infancy Decreased light- and dark-adapted electroretinogram amplitude EMG: myopathic abnormalities Lower limb muscle weakness Intellectual disability, profound Open mouth Pachygyria Joint contracture of the hand Horizontal nystagmus Elbow flexion contracture Abnormal electroretinogram Babinski sign Gowers sign Hypoplasia of the brainstem Skeletal muscle hypertrophy Abnormality of neuronal migration Myopathic facies Lower limb hyperreflexia Abnormality of the periventricular white matter Limb muscle weakness Cerebellar atrophy Lethargy Hypothermia Dry skin Abnormal vertebral morphology Hyperbilirubinemia Goiter Stridor Myotonia Spondyloepiphyseal dysplasia Thyroid hypoplasia Ventriculomegaly Increased thyroid-stimulating hormone level Ectopic thyroid Thyroid agenesis Thyroid dysgenesis Thyroid hemiagenesis Nystagmus Strabismus Cerebellar dysplasia


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