Macrocephaly, and Open mouth

Diseases related with Macrocephaly and Open mouth

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

Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

Other less relevant matches:

FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Open mouth

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Open mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Hyperactivity Absent speech Abnormal facial shape Autism Microcephaly Feeding difficulties Scoliosis Constipation Relative macrocephaly Cryptorchidism Hearing impairment Sensorineural hearing impairment Stereotypy Ventriculomegaly Cerebellar hypoplasia Tented upper lip vermilion Upslanted palpebral fissure Behavioral abnormality Depressed nasal bridge Nystagmus Highly arched eyebrow Aggressive behavior Failure to thrive Prominent forehead Short nose Poor speech

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Tremor Short stature Unsteady gait Wide nasal bridge Downturned corners of mouth Everted lower lip vermilion Prominent supraorbital ridges Widely spaced teeth Prominent nasal bridge Neonatal hypotonia Dental crowding Long face Abnormal cardiac septum morphology Wide mouth Joint laxity Difficulty walking Polyhydramnios Motor delay Thick vermilion border Feeding difficulties in infancy Synophrys Autistic behavior High palate Hypoplasia of the corpus callosum Anteverted nares Visual impairment Low-set ears Muscular hypotonia Gastroesophageal reflux Short philtrum Delayed gross motor development Frontal bossing Speech apraxia Large forehead Pyloric stenosis Broad forehead Obesity Downslanted palpebral fissures Facial hypotonia Intellectual disability, moderate Anxiety Broad nasal tip Increased head circumference Pain Delayed myelination Deeply set eye Delayed speech and language development Drooling Myopia Neonatal asphyxia Macrocephaly at birth Abnormality of the foot musculature Sleepy facial expression Retrognathia Atrial septal defect Congestive heart failure High forehead Leukemia Severe global developmental delay Proximal muscle weakness in upper limbs Hyporeflexia Cavernous hemangioma Mildly elevated creatine phosphokinase Spontaneous abortion External ophthalmoplegia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Easy fatigability Ophthalmoparesis Skeletal muscle hypertrophy Calf muscle hypertrophy Large for gestational age Generalized amyotrophy Proximal muscle weakness in lower limbs Muscle fibrillation Thin ribs Centrally nucleated skeletal muscle fibers Drowsiness Malignant hyperthermia Type 1 muscle fiber predominance Areflexia of lower limbs Exercise-induced myalgia Inability to walk Restrictive deficit on pulmonary function testing Narrow face Premature birth Poor suck Pes planus Muscular hypotonia of the trunk Delayed puberty High, narrow palate Abnormal cerebellum morphology Prominent nose Intention tremor Clonus Nasal speech Narrow mouth Patent foramen ovale Hallux valgus Thickened calvaria Ankylosis Mild global developmental delay Right ventricular hypertrophy Slender build Left ventricular noncompaction Perseveration Kyphoscoliosis Patent ductus arteriosus Focal-onset seizure Decreased muscle mass Status epilepticus Thick lower lip vermilion Frequent falls Increased body weight Nephrocalcinosis Shock Focal impaired awareness seizure Diabetes insipidus Megalencephaly Malar flattening Thick upper lip vermilion Astrocytosis Multifocal epileptiform discharges Minimal subcutaneous fat Hyperplasia of midface Hypovolemic shock Ataxia Ventricular septal defect Kyphosis Progressive muscle weakness Proximal muscle weakness Decreased fetal movement Frontal upsweep of hair Hypoglycemia Reduced visual acuity Diarrhea Hydrocephalus Bilateral sensorineural hearing impairment Intellectual disability, profound Pachygyria Delayed ability to walk Long philtrum Recurrent infections Hypospadias Abnormality of the pinna Language impairment Polymicrogyria Eczema Cerebellar vermis hypoplasia Long palpebral fissure Midface retrusion Hip dislocation Enlarged cisterna magna Progressive spasticity Hypertonia Peripheral neuropathy Thick eyebrow Spasticity Esotropia Broad-based gait Progressive microcephaly Congenital muscular torticollis Tics Short neck Broad columella Happy demeanor Torticollis Congenital hip dislocation Micrognathia Chronic diarrhea Narrow forehead Overgrowth Low hanging columella Dilation of lateral ventricles Urinary incontinence Myopathy Maxillary lateral incisor microdontia Muscle weakness Ptosis Flexion contracture Irritability Skeletal muscle atrophy Dysphagia Areflexia Macroorchidism Pes cavus Cerebral cortical atrophy Myalgia Facial palsy Ophthalmoplegia Peripheral axonal neuropathy Falls Generalized muscle weakness Uplifted earlobe Broad palm Dilated fourth ventricle Asymmetry of the ears Cerebellar dysplasia Dysgenesis of the cerebellar vermis Developmental regression Apraxia Pectus carinatum Self-injurious behavior Chronic constipation Lumbar scoliosis Depressivity Impulsivity Pectus excavatum Mandibular prognathia Macrotia Coarse facial features Abnormality of skin pigmentation Joint hypermobility Short palm Attention deficit hyperactivity disorder Deviated nasal septum


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