Microcephaly, and Mandibular prognathia

Diseases related with Microcephaly and Mandibular prognathia

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


Top matches:

High match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

High match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

High match TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5

High match LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17


Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

High match SLC35A2-CDG


SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

SLC35A2-CDG Is also known as cdg iim|congenital disorder of glycosylation type iim|cdgiim|eiee22|cdg2m|congenital disorder of glycosylation type 2m|cdg syndrome type iim|cdg-iim|epileptic encephalopathy, early infantile, 22

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC35A2-CDG

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 DYGGVE-MELCHIOR-CLAUSEN DISEASE


Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Short neck


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE

High match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

Related symptoms:

  • Seizures
  • Microcephaly
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Mandibular prognathia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hyperreflexia Cerebellar atrophy Absent speech Hypoplasia of the corpus callosum Hypertelorism Coarse facial features Recurrent infections Cerebellar hypoplasia Inability to walk Bulbous nose Ventriculomegaly Hypsarrhythmia Scoliosis Deeply set eye Cerebral atrophy Gastroesophageal reflux Ataxia

Rare Symptoms - Less than 30% cases


Wide nasal bridge Brachycephaly Joint laxity Protruding ear Hip dislocation High palate Intrauterine growth retardation Thick eyebrow Talipes equinovarus Growth delay Babinski sign Wide mouth Tapered finger Intellectual disability, profound Progressive microcephaly Epileptic encephalopathy Postnatal growth retardation Hirsutism Epicanthus Peripheral demyelination Brain atrophy Strabismus Hypertonia Encephalopathy Nephrotic syndrome Feeding difficulties Muscular hypotonia of the trunk Sparse hair Colpocephaly Abnormality of the nervous system Redundant skin Premature skin wrinkling Prominent superficial veins Skeletal dysplasia Autism Kyphosis Narrow nasal ridge Micrognathia Abnormal glycosylation Downslanted palpebral fissures Short neck Ocular flutter Failure to thrive Frontal bossing Growth abnormality Hypoplasia of the maxilla Osteopenia Prominent forehead Broad forehead Joint hypermobility Recurrent fractures Agenesis of corpus callosum Midface retrusion Malar flattening Hydrocephalus Cutis laxa Triangular face Hypotelorism Blue sclerae Abnormality of the skeletal system Bowing of the long bones Large fontanelles Osteoporosis Congenital hip dislocation Hyperlordosis Disproportionate short stature Joint stiffness Hypospadias Hypoplastic ischia Prominent sternum Shoulder dislocation Hypoplastic sacrum Distal ulnar hypoplasia Irregular iliac crest Abnormality of the ilium Sensorineural hearing impairment Muscular hypotonia Cryptorchidism Thin upper lip vermilion Avascular necrosis of the capital femoral epiphysis Camptodactyly Finger syndactyly Single transverse palmar crease Dental crowding Knee flexion contracture Laryngomalacia Self-injurious behavior Ankle contracture Pulmonary artery stenosis Severe postnatal growth retardation Branchial cyst Carpal bone hypoplasia Spondyloepimetaphyseal dysplasia Attention deficit hyperactivity disorder Hallux valgus Pectus carinatum Neurological speech impairment Platyspondyly Genu valgum Micromelia Short metacarpal Sloping forehead Lumbar hyperlordosis Abnormality of the metaphysis Abnormality of epiphysis morphology Coxa vara Short femoral neck Disproportionate short-trunk short stature Short thorax Abnormality of the hip bone Epileptic spasms Thickened calvaria Spinal canal stenosis Hypoplasia of the odontoid process Thoracic kyphosis Cone-shaped epiphyses of the phalanges of the hand Barrel-shaped chest Abnormality of the wrist Hypoplastic pelvis Aplasia/hypoplasia of the extremities Brittle hair Open mouth Aspiration Neonatal hypotonia Short philtrum Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Tetraplegia Gliosis Narrow forehead Spastic tetraplegia Intellectual disability, progressive Intellectual disability, severe Cerebral palsy Drooling Infantile muscular hypotonia Adducted thumb Progressive spasticity Aspiration pneumonia Facial hypotonia Everted upper lip vermilion Pseudobulbar signs Pneumonia Anteverted ears Low-set ears Syndactyly Hearing impairment Proteinuria Arachnodactyly Stage 5 chronic kidney disease Pachygyria Glomerulosclerosis Focal segmental glomerulosclerosis Dystonia Short nose Clinodactyly Thick hair Upslanted palpebral fissure Hypermetropia Dysmetria Apraxia Low posterior hairline Narrow palpebral fissure Oculomotor apraxia Poor head control Abnormality of finger Mild microcephaly Wide nasal ridge Delayed speech and language development Delayed myelination Flexion contracture Optic nerve hypoplasia Cutis marmorata Global brain atrophy Progeroid facial appearance Panhypopituitarism Slow-growing hair Microphallus Widely spaced primary teeth Slow-growing scalp hair Anteverted nares Abnormality of the genital system Kyphoscoliosis Gingival overgrowth Leukodystrophy Spontaneous abortion Widely spaced teeth Low hanging columella Multifocal seizures Nystagmus Rod-cone dystrophy Thick vermilion border Chronic diarrhea Broad-based gait Pes cavus Highly arched eyebrow Posteriorly rotated ears Hyperactivity EEG abnormality Aggressive behavior Dolichocephaly Synophrys Talipes Unsteady gait Long face Prominent nose Cutaneous photosensitivity Postnatal microcephaly Long eyelashes Decreased muscle mass Delayed ability to walk Short stature Micropenis High forehead Retinal dystrophy Decreased antibody level in blood Dandy-Walker malformation Sacral lipoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Wide nose, related diseases and genetic alterations Dysarthria and Malabsorption, related diseases and genetic alterations High palate and Hyporeflexia, related diseases and genetic alterations Cognitive impairment and Dysphagia, related diseases and genetic alterations Cognitive impairment and Visual impairment, related diseases and genetic alterations

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