Cognitive impairment, and Congenital diaphragmatic hernia

Diseases related with Cognitive impairment and Congenital diaphragmatic hernia

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


Top matches:

Low match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME


Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Low match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

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Other less relevant matches:

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY


Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.

Related symptoms:

  • Seizures
  • Ataxia
  • Dysarthria
  • Elevated serum creatine phosphokinase
  • Abnormality of movement


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY

Low match GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

Low match DENT DISEASE TYPE 2


Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

DENT DISEASE TYPE 2 Is also known as nephrolithiasis type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Cognitive impairment
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENT DISEASE TYPE 2

Low match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Macrocephaly Cryptorchidism Short stature Generalized hypotonia Scoliosis Growth delay Micrognathia Ptosis Polydactyly Hypertelorism Hearing impairment Low-set ears Obesity Abnormal facial shape Cleft palate Micropenis Congestive heart failure Patent ductus arteriosus Hand polydactyly Intrauterine growth retardation Feeding difficulties Muscular hypotonia Abnormality of the pinna Strabismus Blepharophimosis Talipes Microcephaly Small hand Elevated serum creatine phosphokinase Supernumerary nipple Sensorineural hearing impairment Hydrocephalus Hypospadias Postaxial hand polydactyly Ataxia Toe syndactyly Finger syndactyly Agenesis of corpus callosum Intellectual disability, mild Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Atrial septal defect Behavioral abnormality Short phalanx of finger Malar flattening Respiratory insufficiency Cardiomyopathy Dysphagia Blindness Anteverted nares Short neck Myopathy Acidosis Skeletal muscle atrophy Ventriculomegaly Retinopathy Abnormality of movement Metabolic acidosis Caudal appendage Wide anterior fontanel Diastasis recti Renal tubular acidosis Optic atrophy Nystagmus Muscle weakness Pyloric stenosis Multicystic kidney dysplasia Broad nasal tip Scarring Sparse hair Feeding difficulties in infancy Hyporeflexia Abnormality of cardiovascular system morphology Abnormality of the skeletal system Brachydactyly Short metatarsal Neoplasm Anophthalmia Pointed chin Short metacarpal Short toe Underdeveloped nasal alae Attention deficit hyperactivity disorder Coloboma Autistic behavior Deeply set eye Gastroesophageal reflux Autism Hyperactivity Mild short stature Midface retrusion Microphthalmia Facial cleft Narrow palpebral fissure Camptodactyly Cleft lip Cleft upper lip Craniosynostosis Abnormality of digit Syndactyly Telecanthus Wide nasal bridge Muscular hypotonia of the trunk Conductive hearing impairment Highly arched eyebrow Renal agenesis Clinodactyly Prominent forehead Edema Ventricular septal defect Omphalocele Preaxial polydactyly Foot polydactyly Delayed speech and language development Postaxial polydactyly Frontal bossing Telangiectasia Triphalangeal thumb Abnormality of epiphysis morphology Aplasia/Hypoplasia of the cerebellum EMG: myopathic abnormalities Hypoplasia of dental enamel Prominent occiput Subcutaneous nodule Thin skin Split hand Renal hypoplasia Interphalangeal joint contracture of finger Overgrowth Abnormality of the skin Nail dysplasia Dental malocclusion Ectodermal dysplasia Molar tooth sign on MRI Spina bifida Aplasia/Hypoplasia of the corpus callosum Hoarse voice Dermal atrophy Open bite Abnormality of dental morphology Ambiguous genitalia Stridor Chorioretinal coloboma Apraxia Ectropion Ectopia lentis Brittle hair Tall stature Reduced number of teeth Short ribs Recurrent skin infections Arnold-Chiari malformation Oligodontia Renal hypoplasia/aplasia Spina bifida occulta Abnormality of dental enamel Horseshoe kidney Congenital hip dislocation Oculomotor apraxia Increased body weight Abnormality of the nail Intestinal malrotation Hypotrichosis Hypodontia Cerebral edema Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Severe lactic acidosis Abnormal mitochondria in muscle tissue Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Basal ganglia calcification Weak cry Congenital lactic acidosis Acute necrotizing encephalopathy Delayed eruption of teeth Cough Iris coloboma Abnormality of skin pigmentation Facial asymmetry Abnormality of the foot Sloping forehead Pruritus Nail dystrophy Papule Corneal opacity Microtia Camptodactyly of finger Exercise-induced lactic acidemia Abnormal cardiac septum morphology Erythema Joint laxity Hydronephrosis Reduced visual acuity Weight loss Abdominal pain Hyperhidrosis Alopecia Nephronophthisis Abnormality of the dentition Hypermelanotic macule Aplasia/Hypoplasia of the skin Short finger Ridged fingernail Shoulder girdle muscle atrophy Osteopathia striata Cleft ala nasi Fatty replacement of skeletal muscle Weakness of long finger extensor muscles Abnormality of the mediastinum Limited shoulder movement Quadriceps muscle weakness Tibialis muscle weakness Abnormal palmar dermatoglyphics Limited wrist extension Lower limb amyotrophy Hip flexor weakness Absence of the sacrum Muscle fiber inclusion bodies Abnormality of the foot musculature Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly EMG: positive sharp waves Abnormality of the middle ear Nonproductive cough Abnormality of the pulmonary vasculature Abnormality of the right hemidiaphragm Midclavicular aplasia Foot dorsiflexor weakness Lower limb muscle weakness Facial palsy Hypothyroidism Dementia Steppage gait Type 1 muscle fiber predominance Slurred speech EMG abnormality Spastic gait Dysarthria Midclavicular hypoplasia Absent Achilles reflex Giant cell tumor of bone Apocrine hidrocystoma Increased variability in muscle fiber diameter Cholesteatoma Linear hyperpigmentation Mildly elevated creatine phosphokinase Rimmed vacuoles Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Shoulder girdle muscle weakness EMG: myotonic discharges Rough bone trabeculation Mixed hearing impairment Short clavicles Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Low-molecular-weight proteinuria Intellectual disability, severe Retinal dystrophy Aniridia Oligodactyly Acute hepatic failure Ectrodactyly Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Dandy-Walker malformation Scapular winging Narrow nasal bridge Vertebral fusion Colitis Macule Proximal tubulopathy Hypercalciuria Progressive spasticity Skin nodule Absent toenail Clitoral hypoplasia Proteinuria Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Anomalous pulmonary venous return Chronic kidney disease Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Nephrocalcinosis Aminoaciduria Hypoplastic pelvis Duodenal atresia Poor eye contact Myoclonus Pericardial effusion Dilatation Renal cyst Tapered finger Flat face Smooth philtrum Broad forehead Wide mouth EEG abnormality Macrotia Posteriorly rotated ears Recurrent infections Immunodeficiency Hemivertebrae Short nose Myopia Hypertension Motor delay Prominent coccyx Urethral valve Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Psychosis Microretrognathia Short 5th finger Optic nerve coloboma Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Arrhythmia Depressed nasal bridge Pain Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Hydrocele testis Aortic regurgitation Missing ribs Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Unilateral renal agenesis Language impairment Bilateral ptosis Bilateral cleft lip and palate Bilateral cleft lip Pes planus Hyperglycemia High anterior hairline Abnormality of finger Postaxial foot polydactyly Scaphocephaly Cutaneous finger syndactyly Partial agenesis of the corpus callosum Delayed cranial suture closure Broad hallux Large for gestational age Preaxial hand polydactyly Trigonocephaly Preaxial foot polydactyly Cutaneous syndactyly Plagiocephaly Accelerated skeletal maturation Joint contracture of the hand Broad thumb Postural instability Hirsutism Confusion Hip dislocation High forehead Downslanted palpebral fissures Broad hallux phalanx Medulloblastoma Broad foot Oral cleft Irregular vertebral endplates Shawl scrotum Bifid scrotum Elbow dislocation Epiphyseal dysplasia Radioulnar synostosis Abnormality of the genitourinary system Scrotal hypoplasia Spontaneous abortion Wormian bones Postnatal growth retardation Cutaneous syndactyly of toes Abnormality of the kidney Intellectual disability, moderate Depressivity Epicanthus 1-3 toe syndactyly Duplication of the distal phalanx of hand 3-4 finger syndactyly Abnormality of calvarial morphology Camptodactyly of toe Abnormality of muscle fibers Metopic synostosis Coarse facial features Thin upper lip vermilion Global brain atrophy Severe global developmental delay Abnormal cerebellum morphology Coma Hepatic steatosis Dyskinesia Hepatic failure Lactic acidosis Stage 5 chronic kidney disease Abnormality of eye movement Limb muscle weakness Lethargy Stroke Generalized myoclonic seizures Abnormal pyramidal sign Abnormality of the liver Pallor Irritability Developmental regression Apnea Mental deterioration Abnormality of the eye Hypertrophic cardiomyopathy Myalgia Proximal muscle weakness Progressive cerebellar ataxia Gliosis Kyphoscoliosis Aspiration Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Exercise intolerance Horizontal nystagmus Cardiac arrest Leukodystrophy Brain atrophy Left ventricular hypertrophy Ventricular hypertrophy Coarctation of aorta Cardiomegaly Optic disc pallor Pigmentary retinopathy Cyanosis Febrile seizures Increased serum lactate Migraine Premature birth Hypoglycemia Respiratory failure Aggressive behavior Sparse scalp hair Obsessive-compulsive behavior Self-injurious behavior Nephroblastoma Laryngomalacia Short chin Bilateral single transverse palmar creases Aortic valve stenosis Sparse and thin eyebrow Stereotypy Broad-based gait Narrow forehead Overweight Eczema Wide intermamillary distance Round face Sleep disturbance Short foot Thick vermilion border Downturned corners of mouth Wide nose Short palm Thin vermilion border Joint hyperflexibility Tracheomalacia Low hanging columella Pneumonia Hepatomegaly Babinski sign Areflexia Encephalopathy Renal insufficiency Dystonia Vomiting Cerebellar atrophy Respiratory distress Talipes equinovarus Fatigue Hyperreflexia Renal neoplasm Peripheral neuropathy Visual impairment Anemia Spasticity Failure to thrive Self-biting Pain insensitivity Abnormal aortic morphology Broad columella Subvalvular aortic stenosis Broad face Abnormality of the clavicle



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