Delayed speech and language development, and Macroglossia

Diseases related with Delayed speech and language development and Macroglossia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Macroglossia that can help you solving undiagnosed cases.


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MONDO UMLS

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

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3

TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: ORPHANET MONDO OMIM UMLS

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3

Medium match COFFIN-SIRIS SYNDROME 2; CSS2

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 ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (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 2; CSS2 Is also known as mental retardation, autosomal dominant 14;mrd14

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO UMLS DOID OMIM

More info about COFFIN-SIRIS SYNDROME 2; CSS2

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Other less relevant matches:

Medium match MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD

Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015).

MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO UMLS OMIM GARD

More info about MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD

Medium match GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD

Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).

GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET UMLS OMIM MESH MONDO

More info about GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type;sialuria, french type

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM GARD MONDO ORPHANET DOID

More info about SIALURIA

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Is also known as ;autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; scar20

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO ORPHANET OMIM UMLS DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Medium match SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS Is also known as amish infantile epilepsy syndrome, epilepsy syndrome, infantile-onset symptomatic, gm3 synthase deficiency, salt and pepper mental retardation syndrome;infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO UMLS ORPHANET SCTID GARD

More info about SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

Medium match TENORIO SYNDROME; TNORS

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO UMLS OMIM

More info about TENORIO SYNDROME; TNORS

Medium match ASPARTYLGLUCOSAMINURIA

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET SCTID

More info about ASPARTYLGLUCOSAMINURIA

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Macroglossia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Macroglossia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Anteverted nares Autosomal recessive inheritance Mandibular prognathia Autosomal dominant inheritance Macrocephaly Thick vermilion border Wide nasal bridge Absent speech Oxycephaly Microcephaly Visual impairment Infantile onset Hepatomegaly Developmental regression Hepatosplenomegaly Hypertrichosis Poor speech Wide mouth Gingival overgrowth Abnormality of cardiovascular system morphology Brachydactyly Hypertelorism Cerebral cortical atrophy Prominent forehead Inability to walk Cerebellar hypoplasia Inguinal hernia Long philtrum Splenomegaly Hearing impairment Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Epicanthus Delayed skeletal maturation High palate Periorbital fullness Thick eyebrow Wide nose Umbilical hernia Feeding difficulties Small nail Recurrent infections Cryptorchidism Ataxia Growth delay Synophrys Hypertonia Hydrocephalus Sensorineural hearing impairment Low-set ears Short neck Frontal bossing Ventricular septal defect Talipes equinovarus Failure to thrive Nystagmus Retrognathia Clinodactyly Depressed nasal bridge Hernia Abnormality of the cerebral white matter Myopathy Cerebral atrophy Ventriculomegaly Bulbous nose Cardiomyopathy Intellectual disability, severe Cognitive impairment Motor delay Highly arched eyebrow Flexion contracture Narrow forehead Hyporeflexia Cortical visual impairment Global brain atrophy Increased serum lactate Progressive neurologic deterioration Wide nasal base Choreoathetosis Athetosis Red urine Muscular hypotonia Optic atrophy Generalized tonic-clonic seizures Tetraparesis Blindness Irritability Vomiting Abnormality of skin pigmentation Retinal degeneration Midface retrusion Myoclonus Broad philtrum Feeding difficulties in infancy Pallor Clonus Visual loss Exaggerated cupid's bow Broad face Cataract Protuberant abdomen Hyperkinesis Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Prolonged prothrombin time Abnormality of the mitochondrion Long hallux Spinal deformities Expressive language delay Pica Spasticity Relative macrocephaly Cerebellar atrophy Babinski sign Kyphoscoliosis Camptodactyly Autistic behavior Talipes Delayed eruption of teeth Neuronal loss in central nervous system Status epilepticus Apraxia Short palpebral fissure Dental crowding Generalized seizures Developmental stagnation Macule Sleep disturbance Abnormality of the dentition Behavioral abnormality Recurrent respiratory infections Arthritis Pes planus Joint stiffness Microtia Neurological speech impairment Pectus carinatum Carious teeth Malabsorption Dyskinesia Hypoinsulinemia Abnormal vertebral morphology Chronic otitis media Thickened calvaria Macroorchidism Abnormality of the ulna Beaking of vertebral bodies Abnormal cortical bone morphology Large face Vascular skin abnormality Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Short nose Stomatitis Lipodystrophy Hypoglycemia Hypermelanotic macule Abnormal retinal morphology Lower limb hyperreflexia Hypoplastic nipples Multifocal epileptiform discharges Hyporeflexia of upper limbs Developmental stagnation at onset of seizures Gait disturbance Pneumonia Osteopenia Gastroesophageal reflux Telecanthus Recurrent aphthous stomatitis Anxiety Apnea Syncope Clumsiness Overgrowth Conjunctivitis Cerebral palsy Delayed cranial suture closure Keratitis Keratoconjunctivitis sicca Raynaud phenomenon Large forehead Episodic abdominal pain Low posterior hairline Thoracic hypoplasia Macrotia Prominent nasal bridge Congenital onset Dysarthria Encephalopathy Respiratory insufficiency Upslanted palpebral fissure Brachycephaly Peripheral neuropathy Cerebellar dysplasia Enlarged cisterna magna Abnormal heart morphology Deeply set eye High forehead Autism Muscular hypotonia of the trunk Intellectual disability, moderate Coloboma Generalized amyotrophy Hypermetropia Everted lower lip vermilion Triangular face Round face Broad nasal tip Strabismus Absent fifth toenail Plagiocephaly Cerebellar vermis hypoplasia Small basal ganglia Reduced brain N-acetyl aspartate level by MRS Gastrostomy tube feeding in infancy Extra-axial cerebrospinal fluid accumulation Profound global developmental delay Short stature Ptosis Abnormality of the periventricular white matter Severe muscular hypotonia Tented upper lip vermilion Agenesis of corpus callosum Abnormality of the pinna Absent fifth fingernail Sloping forehead Brain atrophy Thick lower lip vermilion Sparse scalp hair Peripheral axonal neuropathy Low anterior hairline Long eyelashes Abnormal corpus callosum morphology Shortening of all distal phalanges of the fingers Aplasia/Hypoplasia of the distal phalanges of the hand Prominent interphalangeal joints Open mouth Patent foramen ovale 2-3 toe syndactyly Elevated hepatic transaminase Protruding tongue Severe failure to thrive Respiratory distress Skull asymmetry Skeletal muscle atrophy Pain Myopia Intellectual disability, mild Abnormality of metabolism/homeostasis Hyperactivity Abdominal pain Cutis marmorata Thin upper lip vermilion Attention deficit hyperactivity disorder Smooth philtrum Joint hypermobility High, narrow palate Dysplastic corpus callosum Memory impairment Generalized hirsutism Hoarse voice Cholelithiasis Sleep apnea Failure to thrive in infancy Short chin Supernumerary nipple Severe global developmental delay Transposition of the great arteries Thickened helices Total anomalous pulmonary venous return Horizontal eyebrow Hypoplasia of eyelid Congenital muscular dystrophy Trophic changes related to pain Retinal dystrophy Cleft palate Intrauterine growth retardation Muscular dystrophy Congenital cataract Lissencephaly Obesity Patent ductus arteriosus Facial palsy Elevated serum creatine phosphokinase Hypertrophic cardiomyopathy Thin vermilion border Bifid uvula Delayed myelination Ventricular hypertrophy Dandy-Walker malformation Left ventricular hypertrophy Aspartylglucosaminuria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Low posterior hairline, related diseases and genetic alterations Cataract and Pectus carinatum, related diseases and genetic alterations Ataxia and Myopathy, related diseases and genetic alterations Growth delay and Synophrys, related diseases and genetic alterations Short stature and Nephroblastoma, related diseases and genetic alterations Short stature and Synophrys, related diseases and genetic alterations

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