Microcephaly, and Pectus excavatum

Diseases related with Microcephaly and Pectus excavatum

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


Top matches:

High match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

High match CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME


Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

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Other less relevant matches:

High match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

High match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

High match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

High match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

High match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Pectus excavatum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Micrognathia Motor delay Feeding difficulties Low-set ears Hypertelorism Hearing impairment Epicanthus Flexion contracture Ventriculomegaly Short stature Scoliosis Poor speech Clinodactyly Absent speech Long philtrum Thin upper lip vermilion Hypoplasia of the corpus callosum Cleft palate Open mouth Ataxia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Abnormality of eye movement Unsteady gait Cryptorchidism Midface retrusion Tented upper lip vermilion Short neck Hyperreflexia Severe global developmental delay Gait ataxia Thick eyebrow Macrotia Bulbous nose Myopathy Ptosis Abnormal facial shape Muscle weakness Short palpebral fissure Upslanted palpebral fissure Respiratory insufficiency Tapered finger Dysphagia Dystonia Blepharophimosis Abnormality of the pinna Dilatation Pes planus Joint hypermobility Long face Facial asymmetry Arthrogryposis multiplex congenita Nystagmus Visual impairment Brachydactyly Kyphoscoliosis Joint laxity Arachnodactyly Skeletal muscle atrophy Abnormality of the skeletal system Kyphosis Growth delay Abnormality of the foot Agenesis of corpus callosum Abnormality of the vasculature Arterial tortuosity Cerebellar atrophy Biventricular hypertrophy Intellectual disability, mild Encephalopathy Cerebral cortical atrophy Narrow naris Pulmonary insufficiency Arterial stenosis Ankle contracture Intussusception Autism Mandibular prognathia Generalized muscle weakness Soft skin Downturned corners of mouth Gastroesophageal reflux Aortic root aneurysm Developmental regression Deeply set eye Intellectual disability, severe Multiple joint dislocation Facial palsy Congenital contracture Telecanthus Proximal muscle weakness Conductive hearing impairment Brachycephaly Hyporeflexia Areflexia Myopathic facies Gowers sign Malignant hyperthermia Fever Prominence of the premaxilla Restrictive deficit on pulmonary function testing Narrow forehead Multiple skeletal anomalies Strabismus Cognitive impairment Talipes Pulmonary artery dilatation Generalized arterial tortuosity Pain Pulmonary artery aneurysm Abnormality of the eye Truncal ataxia Feeding difficulties in infancy Short distal phalanx of finger Inappropriate laughter Conspicuously happy disposition Photosensitive tonic-clonic seizures Loss of ability to walk in first decade Behavioral abnormality Short nose Recurrent infections Hyperactivity High forehead Aggressive behavior Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Broad forehead Synophrys Thick vermilion border Abnormality of the nose Hypodontia Syncope Dental crowding Short phalanx of finger Low anterior hairline Abnormality of the hand Obsessive-compulsive behavior 2-3 toe syndactyly Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Happy demeanor Dyslexia Ophthalmoplegia Narrow face Narrow chest Joint hyperflexibility Sleep disturbance Urinary incontinence Epileptic encephalopathy Neuronal loss in central nervous system Generalized-onset seizure Intellectual disability, profound Involuntary movements Decreased body weight Postnatal microcephaly Stereotypy Clonus Aortic aneurysm Intellectual disability, progressive Atrophy/Degeneration affecting the brainstem Aplasia/Hypoplasia of the corpus callosum Drooling Infantile muscular hypotonia Mutism Hyperkinesis Adducted thumb Cachexia Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Decreased muscle mass Bowel incontinence Dysphasia Long nose Slender finger Emphysema Partial agenesis of the corpus callosum Cutis laxa Osteopenia Plagiocephaly Delayed gross motor development Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Wide nasal bridge Microphthalmia Hypospadias Posteriorly rotated ears Narrow mouth Low-set, posteriorly rotated ears Inability to walk Microtia Carious teeth Flat face Short palm Microcornea Wide intermamillary distance Microdontia Scrotal hypoplasia Overfolded helix Broad neck Ureterocele Hypertension Cardiomyopathy Delayed myelination Hydrocephalus Everted lower lip vermilion Camptodactyly Spasticity Syndactyly Pectus carinatum Toe syndactyly Abnormality of movement Chorea Blue sclerae Cerebral visual impairment Rotary nystagmus Ankyloglossia Sensorineural hearing impairment Cataract Myopia Craniosynostosis Anteverted nares Camptodactyly of finger Bilateral sensorineural hearing impairment High myopia Interphalangeal joint contracture of finger Tall stature Joint contracture of the hand Ectopia lentis Camptodactyly of toe Osteochondroma Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Muscular hypotonia Falls Webbed neck Narrow palpebral fissure Poor gross motor coordination Spastic diplegia Difficulty running Lipoma Poor coordination Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Increased serum pyruvate Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Projectile vomiting Depressed nasal bridge Broad-based gait Hernia Inguinal hernia Prominent forehead Proptosis Scarring Recurrent fractures Convex nasal ridge Overgrowth Oligohydramnios Congenital diaphragmatic hernia Bradycardia Spina bifida Joint dislocation Trigonocephaly Progressive neurologic deterioration Underdeveloped nasal alae Dysarthria Low posterior hairline Frequent falls Bilateral ptosis Mild short stature Centrally nucleated skeletal muscle fibers Thoracolumbar scoliosis Nemaline bodies Fused cervical vertebrae Acetabular dysplasia Cervical C2/C3 vertebral fusion Limitation of neck motion Failure to thrive Anemia Optic atrophy Tetraparesis Respiratory distress Vomiting Hypertonia Cerebral atrophy Acidosis Neonatal hypotonia Muscular hypotonia of the trunk Spastic paraplegia Lactic acidosis Hemolytic anemia Metabolic acidosis Coma Increased serum lactate Spastic tetraplegia Aplasia of the 1st metacarpal



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