Microcephaly, and Broad forehead

Diseases related with Microcephaly and Broad forehead

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 61; MRX61


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

High match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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Other less relevant matches:

High match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

High match PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP


Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

High match CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

High match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Top 5 symptoms//phenotypes associated to Microcephaly and Broad forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Feeding difficulties Epicanthus High palate Generalized hypotonia Short nose Ptosis Midface retrusion Upslanted palpebral fissure Micrognathia Gastroesophageal reflux Agenesis of corpus callosum Joint hypermobility Hypotelorism Delayed myelination Hydrocephalus Wide nasal bridge Intellectual disability, severe Prominent forehead Microphthalmia Absent speech Cleft palate Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Single median maxillary incisor Bilateral ptosis Myopathic facies Cerebral visual impairment Redundant skin Short stature Deep philtrum Holoprosencephaly Epileptic encephalopathy Frontal bossing Protruding ear Open mouth Muscular hypotonia Cognitive impairment Mandibular prognathia Neonatal hypotonia Constipation Myoclonus Encephalopathy Edema Stereotypy Ventriculomegaly Strabismus Exotropia Delayed speech and language development Growth delay Language impairment Cryptorchidism Behavioral abnormality Malar flattening Prominent nose Failure to thrive Scoliosis Talipes equinovarus Deeply set eye Cleft lip Abnormality of the pinna Narrow chest Aganglionic megacolon Abdominal distention Round face Abnormality of the skeletal system Oral cleft Macrocephaly Hypermetropia Downslanted palpebral fissures Depressed nasal bridge Intrauterine growth retardation Macrotia Developmental regression EEG abnormality Premature skin wrinkling Severe global developmental delay Kyphoscoliosis Short palm Respiratory failure Inability to walk Growth abnormality Cutis laxa Thick vermilion border Large fontanelles Joint laxity Abnormal glycosylation Bowing of the long bones Blue sclerae Triangular face Hypoplasia of the maxilla Recurrent fractures Bulbous nose Congenital hip dislocation Narrow nasal ridge Colpocephaly Blindness Cerebellar atrophy Intellectual disability, mild Cerebral atrophy Prominent superficial veins Postnatal growth retardation Hip dislocation Developmental stagnation Small hand Clumsiness Aggressive behavior Muscular hypotonia of the trunk Intellectual disability, moderate Feeding difficulties in infancy Irritability Autistic behavior Attention deficit hyperactivity disorder Ophthalmoplegia Joint hyperflexibility Long face Parkinsonism Chorea Choreoathetosis Tall stature Pes cavus Narrow face External ophthalmoplegia Cachexia Mask-like facies Athetosis Self-mutilation Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Hyperactivity Abnormality of metabolism/homeostasis Short foot Loss of consciousness Tapered finger Sleep disturbance Generalized myoclonic seizures Focal-onset seizure Sloping forehead Apraxia Intellectual disability, profound Hypsarrhythmia Thick lower lip vermilion Tetraparesis Postnatal microcephaly Progressive microcephaly Spastic tetraparesis Infantile spasms Dystonia Poor eye contact Hyperventilation Bruxism Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Ataxia Spasticity Motor delay Gait disturbance Vomiting Hypertonia Osteopenia Broad-based gait Brachycephaly Highly arched eyebrow Facial cleft Scaphocephaly Cyclopia Proboscis Small posterior fossa Exencephaly Brachydactyly Thin upper lip vermilion Smooth philtrum Iris coloboma Dental malocclusion Absent thumb Omphalocele Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Abnormality of digit Trigonocephaly Midline defect of the nose Renal dysplasia Poor speech Fine hair Low-set ears Short neck Polydactyly Abnormality of the kidney Cleft upper lip Postaxial hand polydactyly Depressed nasal ridge Encephalocele Polycystic kidney dysplasia Narrow forehead Anophthalmia Pericardial effusion Occipital encephalocele Enlarged kidney Hyperechogenic kidneys Equinovarus deformity Coloboma Synophrys Astigmatism Microcornea Median cleft lip and palate Parietal bossing Osteoporosis Narrow mouth Facial asymmetry Unsteady gait Esotropia Cafe-au-lait spot CNS hypomyelination Precocious puberty Overlapping toe Neurodevelopmental delay Facial hypotonia Long philtrum Camptodactyly Apnea Wide mouth Blepharophimosis Short philtrum Abnormality of the cerebral white matter Flat face Downturned corners of mouth Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Dolichocephaly Telecanthus Semilobar holoprosencephaly Prominent nasal bridge Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Abnormality of cardiovascular system morphology Umbilical hernia Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Arachnodactyly Anxiety Vesicoureteral reflux Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Nystagmus Visual impairment Respiratory insufficiency High forehead Underfolded superior helices



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