Microcephaly, and Macroglossia

Diseases related with Microcephaly and Macroglossia

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

Top matches:

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

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

Other less relevant matches:

Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.

PONTOCEREBELLAR HYPOPLASIA TYPE 9 Is also known as pch9

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 9

MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

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 SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (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 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

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 ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).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, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-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, 2; MDDGB2

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Top 5 symptoms//phenotypes associated to Microcephaly and Macroglossia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Visual impairment Cerebellar hypoplasia Elevated serum creatine phosphokinase Hypoplasia of the corpus callosum Flexion contracture Muscular dystrophy Wide mouth Coarse facial features Anteverted nares Congenital muscular dystrophy Feeding difficulties Ventriculomegaly Short stature Muscle weakness Intellectual disability, severe Abnormality of the cerebral white matter Myopia Motor delay Facial palsy Growth delay Aplasia/Hypoplasia of the distal phalanges of the hand Neonatal hypotonia Abnormal corpus callosum morphology Long eyelashes Sparse scalp hair Hypertrichosis Dandy-Walker malformation Wide nose Dilatation Thick eyebrow Delayed skeletal maturation Abnormality of cardiovascular system morphology Intrauterine growth retardation Depressed nasal bridge Hearing impairment

Rare Symptoms - Less than 30% cases

Small nail Delayed myelination Cryptorchidism Abnormality of the pinna Cerebellar vermis hypoplasia Cerebral cortical atrophy Areflexia Skeletal muscle hypertrophy Proximal muscle weakness Abnormal facial shape Brachydactyly Abnormality of the periventricular white matter Hyperlordosis Hydrocephalus Respiratory insufficiency Calf muscle hypertrophy Generalized muscle weakness Ventricular hypertrophy Cleft palate Cerebellar cyst Hypoplasia of the pons Abnormal heart morphology Sparse hair Heterotopia Thick vermilion border Pachygyria Wide nasal bridge Lissencephaly Cerebellar dysplasia Cardiomyopathy Absent speech Severe global developmental delay Congenital cataract Hirsutism Cataract Spasticity Left ventricular hypertrophy Congenital glaucoma Hypertrophic cardiomyopathy Obesity Low-set ears Ptosis Congenital contracture Patent ductus arteriosus Hypoplasia of the brainstem Lacrimal duct aplasia Retrognathia Delayed eruption of permanent teeth Umbilical hernia Thin vermilion border Spinal rigidity High palate Bifid uvula Moderate myopia Periorbital fullness Short chin Type II lissencephaly Peters anomaly Buphthalmos Failure to thrive in infancy Cutis marmorata Protruding tongue Retinal atrophy Severe failure to thrive Persistent pupillary membrane Hypertonia Hernia Absent fifth fingernail Pigmentary retinopathy Hip dislocation Retinopathy Micropenis Respiratory failure Hyporeflexia Left ventricular systolic dysfunction Myopathy Cognitive impairment Failure to thrive Sensorineural hearing impairment Strabismus Ventricular septal defect Absent fifth toenail Long philtrum Prominent interphalangeal joints Shortening of all distal phalanges of the fingers Low anterior hairline Thick lower lip vermilion Short neck Highly arched eyebrow Poor speech High forehead Agenesis of corpus callosum Constipation Recurrent infections Delayed speech and language development Open mouth Aplasia/Hypoplasia of the corpus callosum Muscle cramps Severe muscular hypotonia Dysphagia Generalized amyotrophy Enlarged cisterna magna Peripheral neuropathy Hyperreflexia Optic atrophy Downslanted palpebral fissures Blindness Retinal dystrophy Dystonia Midface retrusion Babinski sign Abnormality of the nervous system Muscular hypotonia of the trunk Peripheral axonal neuropathy Limb-girdle muscular dystrophy Inability to walk Narrow forehead Triangular face Epicanthus Atrial septal defect Upslanted palpebral fissure Protruding ear Nail dystrophy Long face Narrow face Respiratory distress Brittle hair Cupped ear Spastic diplegia Dry hair Muscular hypotonia Thick nasal alae Skeletal muscle atrophy Brain atrophy Postnatal microcephaly Encephalocele Hypertrophy of the lower limb Proximal amyotrophy Shoulder girdle muscle weakness Achilles tendon contracture Restrictive deficit on pulmonary function testing Shoulder girdle muscle atrophy Thigh hypertrophy Microphthalmia Vertebral fusion Glaucoma Cleft lip Hypermetropia Cleft upper lip Polymicrogyria Intellectual disability, profound Absent septum pellucidum Difficulty climbing stairs Cerebral visual impairment Cerebellar atrophy Progressive microcephaly Clonus Facial hypotonia Areflexia of lower limbs Profound global developmental delay Short upper lip Intellectual disability, mild Toe walking Kyphosis Difficulty walking Myalgia Feeding difficulties in infancy Frequent falls Delayed gross motor development EMG: myopathic abnormalities Skull asymmetry


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