Autoimmunity, and Anal atresia

Diseases related with Autoimmunity and Anal atresia

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


Top matches:

Medium match COMMON VARIABLE IMMUNODEFICIENCY


Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Medium match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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

Low match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Anal atresia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Anal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Purpura Hemolytic anemia Ventricular septal defect Depressivity Autoimmune hemolytic anemia Hypothyroidism Short neck Abnormality of the dentition Muscular hypotonia Intestinal malrotation Anxiety Anemia Hearing impairment Growth delay Seizures Recurrent infections Hypospadias Cleft palate Obesity Anorectal anomaly Patent ductus arteriosus Intrauterine growth retardation Inguinal hernia Thyroiditis Micrognathia Atrial septal defect Vitiligo Hashimoto thyroiditis Wide nasal bridge Cataract Abnormal facial shape Ptosis Cryptorchidism Scoliosis Failure to thrive Hypoparathyroidism Thrombocytopenia Umbilical hernia Conjunctivitis Otitis media Lymphopenia Attention deficit hyperactivity disorder Mental deterioration Decreased antibody level in blood Amenorrhea Specific learning disability Anal stenosis Vesicoureteral reflux Feeding difficulties in infancy Schizophrenia Bulbous nose Pneumonia Autoimmune thrombocytopenia Seborrheic dermatitis Abnormality of the pinna Upslanted palpebral fissure Impaired T cell function Prominent nasal bridge

Rare Symptoms - Less than 30% cases


Low anterior hairline Truncus arteriosus Cachexia Ectodermal dysplasia Feeding difficulties Abnormality of neuronal migration Cafe-au-lait spot Horseshoe kidney Platybasia Brachydactyly Freckling Bundle branch block Abnormality of the urinary system Kyphosis Hypopigmented skin patches Visual loss Clinodactyly Hydroureter Renal insufficiency Hearing abnormality Abnormal eyelid morphology Hepatomegaly Posterior embryotoxon Delusions Renal dysplasia Microdontia Hypodontia Single transverse palmar crease Tetralogy of Fallot Psychosis Acne Hirsutism Hallucinations Congenital cataract Spina bifida Hypocalcemia Unilateral renal agenesis Polymicrogyria Protruding ear Malabsorption Nasal speech Dysmetria Basal ganglia calcification Meningocele Cerebellar atrophy Generalized hypotonia Cognitive impairment High palate Fever Bipolar affective disorder Hydrocephalus Recurrent urinary tract infections Behavioral abnormality Arthritis Abnormality of cardiovascular system morphology Jaundice Hernia Abnormal heart morphology Dementia Posteriorly rotated ears Conductive hearing impairment Dermal atrophy Intellectual disability, moderate Abnormality of the face Scarring Recurrent infection of the gastrointestinal tract Constipation Patellar dislocation Abnormality of the skeletal system Alopecia Polyhydramnios Sparse hair Small for gestational age Autism Nail dystrophy Intellectual disability, mild Omphalocele Psoriasiform dermatitis Inflammation of the large intestine Combined immunodeficiency Alopecia of scalp B lymphocytopenia Recurrent bronchitis Epicanthus Sinusitis Splenomegaly Recurrent respiratory infections Abnormality of the liver Dysphasia Lymphoma Recurrent otitis media Bronchiectasis Bowel incontinence Gastroesophageal reflux Recurrent pneumonia Carious teeth Abnormal intestine morphology Failure to thrive in infancy Chronic otitis media Hyperthyroidism Myalgia IgA deficiency Optic atrophy Type I diabetes mellitus Cholelithiasis Ataxia Choanal atresia Primary amenorrhea Cutaneous photosensitivity Prominent nose Psychotic episodes Hydronephrosis Retrognathia Macrotia Hyperactivity Hypoplasia of the thymus Skeletal muscle atrophy Depressed nasal bridge Muscle weakness Respiratory insufficiency Hypertelorism Duodenal stenosis Strabismus Ischemic stroke Pancreatitis Abnormality of retinal pigmentation Aortic aneurysm Goiter Mutism Hyponatremia Chronic kidney disease Ragged-red muscle fibers Hemiplegia Hemiplegia/hemiparesis External ophthalmoplegia Cerebral visual impairment Focal segmental glomerulosclerosis Overlapping toe Adrenal insufficiency Hyperkinesis Clonus Atrioventricular block Personality changes Hypogonadotrophic hypogonadism Growth abnormality Intestinal obstruction Exercise intolerance Generalized hirsutism Decreased nerve conduction velocity Aplasia/Hypoplasia of the cerebellum Macular degeneration EMG abnormality Reduced tendon reflexes Bifid scrotum Hypercalciuria Bilateral ptosis Truncal ataxia Easy fatigability Ophthalmoparesis Mask-like facies Cardiac arrest Abnormality of mitochondrial metabolism Increased serum lactate Gingival overgrowth Hypertrophic cardiomyopathy Gait ataxia Weight loss Dyspnea Acidosis Photophobia EEG abnormality Proteinuria Apnea Abdominal pain Developmental regression Erythema Nyctalopia Stroke Neurological speech impairment Dilated cardiomyopathy Pruritus Cerebral cortical atrophy Diabetes mellitus Lethargy Encephalopathy Myopathy Vomiting Congestive heart failure Hypertonia Dystonia Headache Cerebral atrophy Arrhythmia Hypogonadism Areflexia Hyporeflexia Elevated serum creatine phosphokinase Delayed skeletal maturation Cerebellar hypoplasia Rod-cone dystrophy Myoclonus Osteoporosis Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Anorexia Pulmonary arterial hypertension Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Type II diabetes mellitus Status epilepticus Memory impairment Ventricular hypertrophy Atrial fibrillation Hemiparesis Hypertrichosis Involuntary movements Decreased body weight Left ventricular hypertrophy Hip dysplasia Migraine Ophthalmoplegia Lactic acidosis Nausea and vomiting Delayed puberty Paresthesia Confusion Ichthyosis Vertigo Peripheral axonal neuropathy Nausea Sensory impairment Nephropathy Polyneuropathy Coma Postural instability Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Sudden cardiac death Aphasia Gastroparesis Vestibular dysfunction Periorbital fullness Thick vermilion border Broad nasal tip Short palpebral fissure Abnormality of the sternum Aplasia cutis congenita Absent eyelashes Distichiasis Bifid clitoris Multiple rows of eyelashes Absent lower eyelashes Aged leonine appearance Syndactyly Midface retrusion Clinodactyly of the 5th finger Pectus carinatum Cloacal exstrophy Camptodactyly Anteriorly placed anus Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Hypoplasia of penis Abnormality of pelvic girdle bone morphology Single umbilical artery Abnormality of the clitoris Epispadias Spinal dysraphism Macrothrombocytopenia Bladder exstrophy Abnormality of the anus Exstrophy Hyperhidrosis Finger syndactyly Abnormality of acid-base homeostasis Nasolacrimal duct obstruction Split foot Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Toenail dysplasia Hypoplastic nipples Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Ectrodactyly Abnormality of dental morphology Hypotrichosis Fine hair Toe syndactyly Dry skin Oral cleft Nail dysplasia Wide intermamillary distance Eczema Sparse scalp hair Melanocytic nevus Inflammatory abnormality of the skin Split hand Thin skin Skin ulcer Abnormality of the nail Finger clinodactyly Oligodontia Episodic quadriplegia Homonymous hemianopia Hyperkalemia Tubulointerstitial nephritis Posterior subcapsular cataract Transient ischemic attack Cardiorespiratory arrest Facial diplegia Aortic dissection Renal tubular dysfunction Visual hallucinations Mitochondrial myopathy Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Progressive external ophthalmoplegia Heart block Left ventricular failure Rhabdomyolysis Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Abnormality of immune system physiology Xerostomia Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Abnormality of visual evoked potentials Neonatal hypoglycemia Stroke-like episode Speech apraxia Abnormal cochlea morphology Paronychia Tubulointerstitial abnormality Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Abnormal mitochondrial morphology Abnormal nerve conduction velocity Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Renal Fanconi syndrome Auditory hallucinations Retinal pigment epithelial atrophy Motor polyneuropathy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Dysesthesia Amaurosis fugax Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Cardiomyopathy Blindness Abnormal cardiac septum morphology Respiratory distress Renal agenesis Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Rheumatoid arthritis Dysdiadochokinesis Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Open mouth Low posterior hairline Peripheral demyelination Underdeveloped nasal alae Abnormality of the ear Chorea Bifid uvula Pulmonic stenosis Blepharophimosis Aggressive behavior Absent speech Intellectual disability, severe Hypoplasia of the corpus callosum Delayed speech and language development Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Myopathic facies Axonal loss Pollakisuria Velopharyngeal insufficiency Talipes equinovarus Downslanted palpebral fissures Low-set ears Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Conotruncal defect Giant platelets Submucous cleft hard palate Retinal vascular tortuosity Paranoia Right aortic arch Mood swings Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Pierre-Robin sequence T-cell lymphoma Decrease in T cell count Malar flattening Autoimmune neutropenia Bloody diarrhea Ectopic calcification Intestinal atresia Duodenal atresia Hematochezia Abnormality of abdomen morphology Severe combined immunodeficiency Absent eyebrow Thickened skin Hepatitis Sepsis Abdominal distention Posterior pharyngeal cleft Humoral immunodeficiency Gastrointestinal stroma tumor Rectal abscess IgM deficiency Lymphoproliferative disorder IgG deficiency Recurrent sinusitis Bronchitis Restrictive ventilatory defect Emphysema Recurrent bacterial infections Vasculitis Neutropenia Lymphadenopathy Elevated hepatic transaminase Arthralgia Brachycephaly Microcolon Jejunal atresia Abnormal hair quantity Abnormality of the hair Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Acute leukemia Acute lymphoblastic leukemia Neuroblastoma Abnormality of the musculature Long nose Non-midline cleft lip Premature ovarian insufficiency Deep philtrum Telangiectasia Gastrointestinal atresia Chronic diarrhea Sloping forehead Convex nasal ridge Neurodegeneration Cleft upper lip Leukemia Abnormality of the nervous system Respiratory failure Neoplasm Abnormality of the ductus choledochus Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Jejunoileal ulceration Decreased proportion of CD8-positive T cells Long philtrum Microphthalmia Ventriculomegaly Scaphocephaly Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Overweight Biliary atresia Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Poor suck Abnormal dermatoglyphics Bronchomalacia Prominent fingertip pads Congenital hip dislocation Anoperineal fistula Dysphagia Fatigue Gait disturbance Tremor Dysarthria Hyperreflexia Peripheral neuropathy Hypertension Motor delay Visual impairment Pain Sensorineural hearing impairment Nystagmus Congenital mitral stenosis Nocturnal lagophthalmos Recurrent aspiration pneumonia Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Hyperbilirubinemia Increased body weight Glaucoma Overfolded helix Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormality of the skull Multiple renal cysts Turricephaly Abnormal lung lobation Foot polydactyly Abnormality of the thorax Arrhinencephaly Hand polydactyly Polycystic kidney dysplasia Laryngomalacia Abnormality of dental enamel Aganglionic megacolon Renal hypoplasia Gastrointestinal hemorrhage Asthma Long face Arachnodactyly Joint hyperflexibility Short philtrum Telecanthus Narrow mouth Small earlobe Abnormal pulmonary valve morphology Sparse and thin eyebrow Paralysis Abnormal vertebral morphology Long eyelashes Heterotopia Small nail Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Growth hormone deficiency Dental malocclusion Highly arched eyebrow Wide nose Joint hypermobility Astigmatism Coloboma Respiratory tract infection Retinal arteriolar tortuosity Myopia Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Occipital myelomeningocele Dilatation Postnatal growth retardation Severe short stature Micropenis Pes planus Hypoglycemia Joint laxity Abnormality of the kidney Adermatoglyphia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Hydronephrosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more