Cognitive impairment, and Midface retrusion

Diseases related with Cognitive impairment and Midface retrusion

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Midface retrusion that can help you solving undiagnosed cases.


Top matches:

Medium match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Medium match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Medium match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

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Other less relevant matches:

Medium 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

Medium match MUSCLE-EYE-BRAIN DISEASE


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' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Medium 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

Medium match AMISH INFANTILE EPILEPSY SYNDROME


Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Medium match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

Medium match ALG12-CDG


ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Cognitive impairment and Midface retrusion

Symptoms // Phenotype % cases
Malar flattening Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Midface retrusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Hearing impairment Short stature Global developmental delay Muscular hypotonia Feeding difficulties Proptosis Failure to thrive Flexion contracture Hypertonia Micrognathia Brachycephaly Scoliosis Mandibular prognathia Frontal bossing Optic atrophy Ptosis Nystagmus Intellectual disability, severe Craniosynostosis Skeletal dysplasia

Rare Symptoms - Less than 30% cases


Feeding difficulties in infancy Facial palsy Abnormal facial shape Strabismus Sensorineural hearing impairment Blindness Depressed nasal bridge Spasticity Hepatosplenomegaly Recurrent respiratory infections Visual loss Hyperactivity Anemia Retinal degeneration Generalized muscle weakness Motor delay Tall stature Increased bone mineral density Muscle weakness Abnormality of pelvic girdle bone morphology Severe global developmental delay Visual impairment Progressive neurologic deterioration Pallor Ventriculomegaly Myoclonus Myopathy Apnea Hepatomegaly Gait disturbance Open mouth Kyphosis Hypoplasia of the corpus callosum Abnormality of the skeletal system High forehead Neonatal hypotonia Choreoathetosis Absent speech Narrow chest Long face Myopathic facies Respiratory tract infection Finger syndactyly Vomiting Abnormality of the skin Abnormality of the pinna Irritability Malnutrition Developmental stagnation Multifocal epileptiform discharges Slender finger Femoral bowing Atrial septal defect Hyporeflexia of upper limbs Multiple joint contractures Rocker bottom foot Developmental stagnation at onset of seizures Radioulnar synostosis Long philtrum Abnormality of the genitourinary system Wide anterior fontanel Choanal atresia Arachnodactyly Respiratory failure Camptodactyly Lower limb hyperreflexia Abnormal retinal morphology Generalized-onset seizure Hypermelanotic macule Proximal muscle weakness Short palpebral fissure Narrow forehead Downturned corners of mouth Talipes Abnormality of the foot Arthrogryposis multiplex congenita Blepharophimosis Telecanthus Conductive hearing impairment Congenital contracture Kyphoscoliosis Hyporeflexia Areflexia Pectus excavatum Respiratory insufficiency Downslanted palpebral fissures Skeletal muscle atrophy Fever Tented upper lip vermilion Gowers sign Global brain atrophy Inability to walk Loss of consciousness Cerebral visual impairment Gingival overgrowth Tetraparesis Status epilepticus Coronal craniosynostosis Increased serum lactate Macroglossia Abnormality of skin pigmentation Ankle contracture Generalized tonic-clonic seizures Developmental regression Coarse facial features Cerebral cortical atrophy Hernia Multiple skeletal anomalies Persistent open anterior fontanelle Restrictive deficit on pulmonary function testing Malignant hyperthermia Esophageal atresia Osteopetrosis Stenosis of the external auditory canal Ridged nail Hypodontia Postural instability Recurrent fractures Delayed eruption of teeth Short distal phalanx of finger Osteolytic defects of the phalanges of the hand Carious teeth Spondylolisthesis Hyperlordosis Prominent nose Small face Low back pain Osteoporosis Prominent forehead Splenomegaly Abnormality of the dentition Macrocephaly Brachydactyly Pain Hypoplasia of the maxilla Growth hormone deficiency Generalized edema Osteolysis Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Sleep apnea Abnormality of the fingernails Blue sclerae Narrow palate Wormian bones Abnormality of the nail Short toe Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Abnormality of the face Small nail Butterfly vertebrae Prolonged partial thromboplastin time Choanal stenosis Pear-shaped nose Snoring Spondylolysis Edema Osteolytic defects of the distal phalanges of the hand Cardiomyopathy Talipes equinovarus Fused labia minora Bicoronal synostosis Narrow pelvis bone Immunodeficiency Narrow iliac wings Ulnar bowing Abnormality of the clavicle Humeroradial synostosis Lambdoidal craniosynostosis Abnormal renal morphology Vaginal atresia Upper airway obstruction Hypoplastic labia majora Absent frontal sinuses Delayed eruption of primary teeth Short femur Progressive microcephaly Short tibia IgG deficiency Abnormality of immune system physiology Short humerus Epiphyseal dysplasia Hypoplasia of the radius Scrotal hypoplasia Sandal gap Hypocalcemia Rhizomelia Delayed eruption of permanent teeth Abnormality of the genital system Limb undergrowth Decreased antibody level in blood Sepsis Short philtrum Micropenis Hypospadias Abnormal pattern of respiration Persistence of primary teeth Epicanthus Infantile muscular hypotonia High palate Overgrowth Broad ribs Abnormal cranial nerve morphology Hyperostosis Constriction of peripheral visual field Anosmia Increased intracranial pressure Cutaneous syndactyly Nail dysplasia Abnormality of the nose Esotropia Dental malocclusion Paralysis Headache Syndactyly Wide nasal bridge Hypertelorism Serositis Abnormal cortical bone morphology Craniofacial hyperostosis Complement deficiency Facial palsy secondary to cranial hyperostosis Pes cavus Constipation Abnormality of metabolism/homeostasis Dystonia Behavioral abnormality Delayed speech and language development Ataxia Cortically dense long tubular bones Curved distal phalanges of the hand Fingernail dysplasia Sclerotic scapulae 2-3 finger syndactyly Trigeminal neuralgia Sclerotic vertebral endplates Broad clavicles Esodeviation Deviation of finger Diaphyseal thickening Malar rash Antiphospholipid antibody positivity Muscular hypotonia of the trunk Fatigue Psychosis Memory impairment Hemolytic anemia Skin rash Autoimmunity Arthritis Alopecia Thrombocytopenia Elbow ankylosis Inflammatory abnormality of the skin Craniofacial dysostosis Cloverleaf skull Recurrent corneal erosions Amniotic constriction ring Abnormal form of the vertebral bodies Convex nasal ridge Limitation of joint mobility Low-set, posteriorly rotated ears Cutaneous photosensitivity Vasculitis Pleuritis Pericarditis Antinuclear antibody positivity Raynaud phenomenon Gangrene Hashimoto thyroiditis Epiphyseal stippling Aseptic necrosis Autoimmune thrombocytopenia Thyroiditis Autoimmune hemolytic anemia Purpura Abnormality of the thyroid gland Increased antibody level in blood Abnormality of coagulation Rheumatoid arthritis Glomerulonephritis Nephritis Systemic lupus erythematosus Leukopenia Aggressive behavior Intellectual disability, moderate Low-set ears Severe muscular hypotonia Hypoplasia of the brainstem Aplasia/Hypoplasia of the cerebellum Congenital muscular dystrophy Abnormality of the voice Optic nerve hypoplasia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Opacification of the corneal stroma Cortical dysplasia EMG abnormality Pachygyria Encephalocele Intellectual disability, profound High myopia Everted lower lip vermilion Polymicrogyria Abnormality of movement Hemiplegia/hemiparesis Congenital glaucoma Abnormality of the cerebral white matter Cerebellar cyst Cryptorchidism Cleft palate Growth delay Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Type II lissencephaly Retinal atrophy Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Retinal dysplasia Meningocele Megalocornea Congenital cataract Muscular dystrophy Autistic behavior Clumsiness Language impairment Redundant skin Cachexia External ophthalmoplegia Narrow face Exotropia Stereotypy Aganglionic megacolon Delayed myelination Athetosis Chorea Parkinsonism Joint hypermobility Joint hyperflexibility Ophthalmoplegia Hypermetropia Broad forehead Attention deficit hyperactivity disorder Mask-like facies Self-mutilation Neurological speech impairment Myopia Coloboma EEG abnormality Glaucoma Agenesis of corpus callosum Cerebellar hypoplasia Elevated serum creatine phosphokinase Dilatation Microphthalmia Cataract Chronic constipation Underfolded superior helices Poor hand-eye coordination Abnormality of creatine metabolism Duodenal ulcer Urethral stenosis Impaired social interactions Ileus Speech apraxia Abnormal pelvis bone ossification



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Umbilical hernia, related diseases and genetic alterations Hydrocephalus and Leukodystrophy, related diseases and genetic alterations Visual impairment and Spina bifida, related diseases and genetic alterations Skeletal muscle atrophy and Craniosynostosis, related diseases and genetic alterations

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