Edema, and Autism

Diseases related with Edema and Autism

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

Top matches:

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Medium match SEPTOOPTIC DYSPLASIA

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Other less relevant matches:

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Autism

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ventriculomegaly Attention deficit hyperactivity disorder Cerebral visual impairment Sleep disturbance Behavioral abnormality Congestive heart failure Optic atrophy Hearing impairment Vomiting Intellectual disability, severe Gastroesophageal reflux Cognitive impairment Cataract Hypothyroidism Specific learning disability Failure to thrive Generalized-onset seizure Generalized hypotonia Neoplasm Anxiety EEG abnormality Precocious puberty Renal insufficiency Abnormality of the dentition Motor delay Cerebral cortical atrophy Constipation Hypertrophic cardiomyopathy Ptosis Peripheral neuropathy High palate Cryptorchidism Hepatomegaly Lymphedema Growth delay Feeding difficulties Pain Short nose Depressed nasal bridge Myopia Short neck Hypertonia Atrial septal defect Delayed skeletal maturation Feeding difficulties in infancy Cardiomegaly Neurological speech impairment Delayed puberty Abnormality of the cerebral white matter Apnea Intellectual disability, mild Osteopenia Headache Hypertension Dilatation Irritability Vesicoureteral reflux Hyporeflexia Clinodactyly of the 5th finger Macrotia Wolff-Parkinson-White syndrome Abnormality of the pinna Hypermetropia Infantile spasms Full cheeks Cafe-au-lait spot Stroke Cerebral calcification Ventricular septal defect Renal cyst Epicanthus Delayed speech and language development Micrognathia Arrhythmia Long philtrum Microcephaly Dolichocephaly Thick vermilion border Hyperactivity Abnormality of the cardiovascular system Cardiomyopathy Vertigo Obesity Kyphosis Fever Developmental regression Growth hormone deficiency Aplasia/Hypoplasia of the cerebellum Hip dysplasia Scoliosis Myoclonus Blindness Pruritus

Rare Symptoms - Less than 30% cases

Ataxia Psychotic episodes Malar flattening Diarrhea Pulmonary embolism Atopic dermatitis Dysarthria Umbilical hernia Neonatal hypotonia Hydronephrosis Aggressive behavior Adrenal insufficiency Protruding ear Failure to thrive in infancy Hypertelorism Dysphagia Gait disturbance Nausea Hemiparesis Decreased body weight Dyspnea Intellectual disability, moderate Peripheral axonal neuropathy Abnormality of the kidney Ichthyosis Autistic behavior Erythema Hypopigmentation of the skin Macrocephaly Nevus Polycystic kidney dysplasia Aortic aneurysm Generalized hypopigmentation Encephalopathy Depressivity Cerebral atrophy Nausea and vomiting Bilateral ptosis Poor suck Premature birth Sleep apnea Low-set, posteriorly rotated ears Prominent forehead Intrauterine growth retardation Anteverted nares Myopathy Increased nuchal translucency Abnormality of cardiovascular system morphology Pectus excavatum Abnormality of the ulna Truncal obesity Hypogonadism Obsessive-compulsive behavior Generalized hirsutism Primary amenorrhea Low posterior hairline Respiratory failure Downturned corners of mouth Small hand Short foot Intestinal malrotation Osteoporosis Sensorineural hearing impairment Thick eyebrow Episodic vomiting High, narrow palate Psychosis Dental malocclusion Long eyelashes Multicystic kidney dysplasia Large hands Impaired pain sensation Delayed CNS myelination Type II diabetes mellitus Narrow forehead Diabetes mellitus Tongue thrusting Amenorrhea Polymicrogyria Genu valgum Carious teeth Leukemia Respiratory tract infection Photophobia Weight loss Hypogonadotrophic hypogonadism Bulbous nose Glaucoma Hemianopia Astrocytoma Gingival fibromatosis Talipes Micropenis Psychomotor deterioration Pneumothorax Chylothorax Abnormality of the respiratory system Adenoma sebaceum Ependymoma Shagreen patch Heterotopia Hydrocephalus Hypoglycemia Increased intracranial pressure Skin tags Angiofibromas Generalized amyotrophy Talipes equinovarus Abnormality of neuronal migration Visual impairment Generalized myoclonic seizures Congenital cataract Coarse facial features Abnormality of the eye Hyperreflexia Hemiplegia/hemiparesis Multiple cafe-au-lait spots Hamartoma Renal cell carcinoma Severe global developmental delay Clonus Cerebellar hypoplasia Renal angiomyolipoma Optic nerve glioma Atrioventricular block Agenesis of corpus callosum Spasticity Respiratory insufficiency Dental enamel pits Abnormality of the liver Muscle weakness Ungual fibroma Pulmonary lymphangiomyomatosis Hypomelanotic macule Bradycardia Achromatic retinal patches Subungual fibromas Rhabdomyoma Subcutaneous nodule Respiratory distress Syndactyly Chordoma Hyperkeratosis Cardiac rhabdomyoma Aplasia/Hypoplasia of the corpus callosum Cortical tubers Paresthesia Hypopigmented skin patches Exercise intolerance Subependymal nodules Optic nerve hypoplasia Facial diplegia Increased CSF lactate Cardiorespiratory arrest Xerostomia Visual hallucinations Heart block Delusions Mitochondrial myopathy Transient ischemic attack Abnormal location of ears Posterior subcapsular cataract Progressive external ophthalmoplegia Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Hypoparathyroidism Puberty and gonadal disorders Abnormality of the hairline Cerebral ischemia Generalized ichthyosis Endocarditis Spontaneous hematomas Leber optic atrophy Frontal balding Anterior creases of earlobe Persistence of primary teeth Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Writer's cramp Muscle fiber atrophy Optic nerve dysplasia Dysesthesia Hypoplasia of the frontal lobes Laryngeal cleft Reduced consciousness/confusion Hyperkeratosis pilaris Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Neonatal hypoglycemia Speech apraxia Motor polyneuropathy Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Abnormality of the renal tubule Functional abnormality of the gastrointestinal tract Vitiligo Hyperkalemia Abnormality of visual evoked potentials Ischemic stroke Purpura Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Mutism EMG abnormality Schizophrenia Goiter Hyperkinesis Easy fatigability Growth abnormality Eyelid fasciculation Type I diabetes mellitus Truncal ataxia Abnormality of the auditory canal Hypertrichosis Bilateral sensorineural hearing impairment Nephrotic syndrome Pulmonary arterial hypertension Status epilepticus Ventricular hypertrophy Atrial fibrillation Involuntary movements Cardiac arrest Multiple plantar creases Left ventricular hypertrophy Anorexia Gingival overgrowth Abnormality of retinal pigmentation Hallucinations Multiple palmar creases Chronic kidney disease Hashimoto thyroiditis Hyperthyroidism Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Rhabdomyolysis Dysphasia Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Distal arthrogryposis Drowsiness Morphological abnormality of the gastrointestinal tract Visual field defect Vestibular dysfunction Cachexia Hyponatremia Decreased nerve conduction velocity Hypercalciuria Inappropriate crying Hemiplegia Cutaneous T-cell lymphoma Abnormality of mitochondrial metabolism Ophthalmoparesis Aphasia Personality changes Intestinal obstruction Bifid scrotum Mask-like facies Focal segmental glomerulosclerosis Overlapping toe Bundle branch block Sparse or absent eyelashes Abnormal mitochondrial shape Gastroparesis Memory impairment Narrow palate Sparse eyelashes Abnormality of the gastrointestinal tract Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Oculomotor apraxia Aspiration Cutis laxa Abnormal palate morphology Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Abnormality of the nail Hyperpigmentation of the skin Poor appetite Abnormal bleeding Falls Bruising susceptibility Retinal dystrophy Hepatic steatosis Palmoplantar keratoderma Abdominal distention Webbed neck Thickened skin Progressive visual loss Coarctation of aorta Fine hair Myocardial infarction Inflammatory abnormality of the skin Open mouth Hemangioma Abnormality of the genitourinary system Long face Hydroureter Chronic otitis media Heart murmur Absent eyebrow Large for gestational age Open bite Malnutrition Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Biparietal narrowing Neurodevelopmental delay Neurofibromas Abnormality of the sternum Abnormal heart valve morphology Long palpebral fissure Cubitus valgus Ectropion Delayed gross motor development Generalized hyperpigmentation Palmoplantar hyperkeratosis Abnormality of vision Relative macrocephaly Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Hyperextensible skin Pleural effusion Curly hair Deep philtrum Redundant skin Brittle hair Sparse eyebrow Scaling skin Joint hypermobility Abnormality of skin pigmentation Amaurosis fugax Episodic quadriplegia Cochlear degeneration Paralytic ileus Abnormal cochlea morphology Abnormality of the pulmonary artery Homonymous hemianopia Abnormality of acid-base homeostasis Hyperextensibility of the finger joints Cochlear malformation Abnormal aortic valve morphology Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Subvalvular aortic stenosis Morphological abnormality of the inner ear Prominent ear helix Progressive night blindness Excessive wrinkled skin Thickened helices Crohn's disease Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Multiple lentigines Tubulointerstitial abnormality Abnormality of the cerebellar vermis Cavernous hemangioma Edema of the dorsum of hands Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Abnormality of hair texture Low-set ears Downslanted palpebral fissures Dry skin Sparse hair Woolly hair Proptosis Polyhydramnios High forehead Short attention span Telecanthus Scarring Thick upper lip vermilion Abnormal cardiac septum morphology Pectus carinatum Nail dystrophy Hypotrichosis Pulmonic stenosis Astigmatism Hyperhidrosis Abnormal hair pattern Frontal bossing Inguinal hernia Slow-growing hair Splenomegaly Thrombocytopenia Hernia Abnormal heart morphology Abnormal mitral valve morphology Alopecia Dystrophic fingernails Gastrointestinal dysmotility Posteriorly rotated ears Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Abnormality of the testis Abnormality of the optic nerve Pigmentary retinopathy Arachnodactyly Increased serum lactate Recurrent infections Tall stature Chronic diarrhea Nephrolithiasis Renal dysplasia Abnormality of the genital system Broad-based gait Hepatitis Hepatic failure Unsteady gait Facial asymmetry Deeply set eye Patent ductus arteriosus Absent speech Midface retrusion Immunodeficiency Hypohidrosis Wide nasal bridge Projection of scalp hair onto lateral cheek Connective tissue nevi Premature chromatid separation Flank pain Fibroma Brain neoplasm White hair Renal neoplasm Hyperventilation Nephroblastoma CNS hypomyelination Tachypnea Hypoplasia of dental enamel Dental crowding Pointed chin Brain atrophy Heat intolerance Hip dislocation Joint stiffness Conductive hearing impairment Brachycephaly Hypospadias Cleft palate Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Hyperorality Cerebellar cortical atrophy Toenail dysplasia Periorbital fullness Concave nasal ridge Bruxism Short chin Prominent supraorbital ridges Accelerated skeletal maturation Sacral dimple Abnormality of the outer ear Poor head control Recurrent skin infections Recurrent upper respiratory tract infections Hypoplastic toenails Arachnoid cyst 2-3 toe syndactyly Cellulitis Weak cry Poor eye contact Palpebral edema Abnormality of the periventricular white matter Focal-onset seizure Gliosis Synophrys Absent septum pellucidum Decreased circulating luteinizing hormone level Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Anterior pituitary hypoplasia Cavum septum pellucidum Colpocephaly Adrenocorticotropic hormone deficiency Panhypopituitarism Amniotic constriction ring Severe vision loss Hypopituitarism Short finger Skeletal dysplasia Diabetes insipidus Cerebral palsy Hypocalcemia Dehydration Abnormality of eye movement Polydactyly Severe short stature Hypoplasia of the corpus callosum Abnormality of brainstem morphology Telangiectasia of the skin Telangiectasia Abnormality of extrapyramidal motor function Sensory neuropathy Abnormal pyramidal sign Decreased circulating follicle stimulating hormone level Tetraplegia Chest pain Multiple renal cysts Retinal detachment Cough Skin rash Carcinoma Subependymal giant-cell astrocytoma Confetti-like hypopigmented macules Retinal hamartoma Macrodactyly Third degree atrioventricular block Abnormality of the pleura Rhabdomyosarcoma Abnormality of the pancreas Gingivitis Neoplasm of the pancreas Nevus flammeus Recurrent pneumonia Long-tract signs Vegetative state Diffuse white matter abnormalities Vascular skin abnormality Angiokeratoma Progressive psychomotor deterioration Angiokeratoma corporis diffusum Oligosacchariduria Macule Increased urinary O-linked sialopeptides Papule Iris coloboma Emphysema Prominent occiput Cortical dysplasia Toe syndactyly Micromelia Migraine Frontal upsweep of hair Tremor Skeletal muscle atrophy Anemia Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Clitoral hypoplasia Cerebellar atrophy Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Fatigue Dystonia Hypopigmentation of hair Ophthalmoplegia Sensory impairment Sudden cardiac death Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Hirsutism Lactic acidosis Confusion Dysmetria Anal atresia Malabsorption Arthrogryposis multiplex congenita Visual loss Acidosis Areflexia Elevated serum creatine phosphokinase Rod-cone dystrophy Dementia Abdominal pain Gait ataxia Jaundice Lethargy Myalgia Proteinuria Mental deterioration Nyctalopia Dilated cardiomyopathy Generalized tonic-clonic seizures Hypoventilation Striae distensae Thin vermilion border Hypoplastic nipples Recurrent respiratory infections Clinodactyly Abnormal facial shape Abnormally low-pitched voice Prenatal movement abnormality Phthisis bulbi Curly eyelashes Volvulus Abnormality of the uterus Short 1st metacarpal Hypoplastic labia majora Severe postnatal growth retardation Blepharitis Oligodactyly Cutis marmorata Narrow mouth Proximal placement of thumb Elbow dislocation Radioulnar synostosis Pyloric stenosis Atresia of the external auditory canal Widely spaced teeth Bilateral single transverse palmar creases Low anterior hairline Choanal atresia Congenital diaphragmatic hernia Hypoplasia of penis Microcornea Delayed eruption of teeth Highly arched eyebrow Upslanted palpebral fissure Thin upper lip vermilion Myeloid leukemia Bicuspid aortic valve Narrow nasal bridge Polyphagia External genital hypoplasia Decreased muscle mass Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Emotional lability Radial deviation of finger Hyperinsulinemia Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Narrow palpebral fissure Abnormality of the nervous system Febrile seizures Infertility Short palm Tapered finger Sepsis Gastrointestinal hemorrhage Esotropia Oligohydramnios Spontaneous abortion Decreased fetal movement Cutaneous photosensitivity Clumsiness Insulin resistance Aortic valve stenosis Increased body weight Oral aversion


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