Hypertelorism, and Gastrointestinal hemorrhage

Diseases related with Hypertelorism and Gastrointestinal hemorrhage

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

Top matches:

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Other less relevant matches:

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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 COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Gastrointestinal hemorrhage. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Low-set ears Micrognathia Hypertension Growth delay Failure to thrive Abnormal facial shape Macrocephaly Abnormality of cardiovascular system morphology Hydrocephalus Generalized hypotonia Neoplasm Muscular hypotonia Renal insufficiency Epicanthus Inguinal hernia Ventricular septal defect Dilatation Tetralogy of Fallot Strabismus Hepatomegaly Frontal bossing Cryptorchidism Intellectual disability, mild Specific learning disability Mitral valve prolapse Cognitive impairment Feeding difficulties in infancy Autism Pulmonic stenosis Apnea Attention deficit hyperactivity disorder Splenomegaly Anal atresia Abnormality of the skeletal system Talipes equinovarus Arthritis Laryngomalacia Polyhydramnios Respiratory insufficiency Abnormality of the liver Keratoconus Abnormality of the dentition Glaucoma Abnormality of skin pigmentation Behavioral abnormality Joint hyperflexibility Intestinal malrotation Depressivity Microcephaly Hearing impairment Atrial septal defect Pain Cleft palate Cataract Delayed speech and language development Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Proptosis Narrow mouth Multiple small medullary renal cysts Posterior embryotoxon Heart murmur Hypospadias Chronic hepatic failure Intrahepatic biliary atresia Umbilical hernia Deeply set eye Telecanthus Cholestatic liver disease Pectus excavatum Long philtrum Short neck Constipation Postnatal growth retardation Hepatosplenomegaly Vertigo Sepsis Hyperhidrosis Migraine Eczema Protruding ear Long eyelashes Flexion contracture Purpura Large forehead Abnormal pulmonary valve morphology Abnormality of dental enamel Gastroesophageal reflux Headache Blindness Myalgia Nephrotic syndrome Embryonal rhabdomyosarcoma Carious teeth Short philtrum Pruritus Malabsorption Overgrowth Renal hypoplasia Coarctation of aorta Vesicoureteral reflux Aganglionic megacolon Delayed puberty Cafe-au-lait spot Carcinoma Hypoglycemia Conductive hearing impairment Coarse facial features Upslanted palpebral fissure Delayed skeletal maturation Intrauterine growth retardation Myopia Vestibular Schwannoma Spina bifida Rhabdomyosarcoma Schwannoma Lymphedema Osteopenia Joint hypermobility Varicose veins Flat face High, narrow palate Premature birth Abnormality of the skin Renal artery stenosis Short chin Redundant skin Aortic aneurysm Telangiectasia of the skin Dilatation of the cerebral artery Abnormal pupil morphology Kyphoscoliosis Pneumothorax Arterial stenosis Renovascular hypertension Dysarthria Cardiomyopathy Multicystic kidney dysplasia Pointed chin Visual loss Abnormal heart morphology Osteoporosis Portal hypertension Hypertrophic cardiomyopathy Intellectual disability, moderate Cirrhosis Round face Diarrhea Anxiety Retinal dystrophy Anomalous pulmonary venous return Anteverted nares Long face Choanal atresia Stage 5 chronic kidney disease Acidosis Vomiting Abdominal distention Abnormality of the pharynx Wide nose Prominent nasal bridge Wide mouth Apraxia Thick vermilion border Sleep apnea Cholestasis Intellectual disability, severe Prominent forehead Nystagmus Abnormal intestine morphology High palate Cutis laxa Nasal speech Wide nasal bridge Abnormality of the kidney Abnormality of the nervous system Ataxia Optic nerve coloboma Elevated hepatic transaminase Visual impairment Hand polydactyly Hypopigmented skin patches Abnormality of the thorax Polycystic kidney dysplasia Cholelithiasis Schizophrenia Hepatic fibrosis Hypocalcemia Asthma Bulbous nose Arachnodactyly Overfolded helix Hypothyroidism Patent ductus arteriosus Obesity Thrombocytopenia Microphthalmia Immunodeficiency Malar flattening Autoimmunity Turricephaly Chronic otitis media Impaired T cell function Seborrheic dermatitis Abnormal thrombocyte morphology Abnormal aortic valve morphology Small earlobe Platybasia Arrhinencephaly Anorectal anomaly Tetany Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Hypoplasia of the thymus Corneal neovascularization Acne Hypoparathyroidism Dysphasia Bowel incontinence Hyperthyroidism Foot polydactyly Abnormal lung lobation Bipolar affective disorder Patellar dislocation Abnormality of the uterus Multiple renal cysts Abnormality of the skull Meningocele Truncus arteriosus Abnormal eyelid morphology Atelectasis Chronic obstructive pulmonary disease Syndactyly Papillary thyroid carcinoma Abnormality of metabolism/homeostasis Hypertriglyceridemia Hypodontia Triangular face Bifid uvula Prominent nose Pigmentary retinopathy Abnormality of the ribs Abnormal form of the vertebral bodies Hypopigmentation of the skin Renal dysplasia Exotropia Metabolic acidosis Abnormal vertebral morphology Single transverse palmar crease Hemivertebrae Microcornea Short distal phalanx of finger Spina bifida occulta Keratitis Areflexia Mild short stature Clinodactyly of the 5th finger Preauricular pit Brachycephaly Macrotia Jaundice Hepatic failure Hyponatremia Craniosynostosis Scarring Retinopathy Stroke Broad forehead Finger clinodactyly Hypercholesterolemia Optic atrophy Band keratopathy Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Butterfly vertebrae Abnormal anterior chamber morphology Biliary atresia Feeding difficulties Peripheral arterial stenosis Axenfeld anomaly Vitamin D deficiency Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Thyroid carcinoma Intrahepatic cholestasis Corneal dystrophy Chorioretinal atrophy Renal hypoplasia/aplasia Glomerulosclerosis Toe syndactyly Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Long nose Coronal craniosynostosis Prolonged neonatal jaundice Renal tubular acidosis Abnormality of the ureter Exocrine pancreatic insufficiency Hepatocellular carcinoma Abnormality of the vasculature Pulmonary artery stenosis Occipital myelomeningocele Arrhythmia Motor delay Fasting hypoglycemia Redundant neck skin Labial hypoplasia Deep palmar crease Asymmetric septal hypertrophy Abnormal mitral valve morphology Broad philtrum Hypoplasia of teeth Lack of skin elasticity Concave nail Hyperextensibility of the finger joints Broad femoral neck Abnormality of earlobe Limited elbow movement Fetal distress Abnormality of the testis Central apnea Papilloma Thickened nuchal skin fold Arnold-Chiari type I malformation Neonatal hypoglycemia Soft skin Obstructive sleep apnea Severe postnatal growth retardation Microscopic hematuria Fragile nails Verrucae Megalencephaly Barrel-shaped chest Progeroid facial appearance Woolly hair Large earlobe Thick upper lip vermilion Achilles tendon contracture Bronchomalacia Large face Central hypotonia Myofiber disarray Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Enlarged cerebellum Vitreomacular adhesion Multifocal atrial tachycardia Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Neonatal sepsis Deep-set nails Thin nail Duodenal ulcer Deep plantar creases Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Ulnar deviation of the wrist Frontal hirsutism Body odor Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Syringomyelia Tracheomalacia Dysphagia Sleep disturbance Pectus carinatum Arthrogryposis multiplex congenita Hypermetropia Astigmatism Tachycardia Hematuria Postural instability Irritability Ascites Tetraplegia Macroglossia Full cheeks Nevus Webbed neck Sparse hair Low-set, posteriorly rotated ears Hip dysplasia Hernia Ventriculomegaly Edema Myopathy Short nose Cerebral atrophy Absent speech Congestive heart failure Joint laxity Pes cavus Severe short stature Posteriorly rotated ears Hypogonadism Cerebral cortical atrophy Respiratory failure Hyperkeratosis Growth hormone deficiency Epidermal acanthosis Generalized hyperpigmentation Rocker bottom foot Failure to thrive in infancy Pleural effusion Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Tricuspid regurgitation Large for gestational age Hyperextensible skin Neurodevelopmental delay Reduced subcutaneous adipose tissue Curly hair Neuroblastoma Rhabdomyolysis Ulnar deviation of finger Pyloric stenosis Poor suck Thick lower lip vermilion Abnormality of the hair Atrial fibrillation Hypoplasia of dental enamel Decreased body weight Hyperpigmentation of the skin Wide anterior fontanel Hydrops fetalis Hoarse voice Relative macrocephaly Narrow palate Abnormality of the fingernails Acanthosis nigricans Abnormal dermatoglyphics Infantile muscular hypotonia Hemangioma Arnold-Chiari malformation Clinodactyly Neuroma Abnormality of digit Persistent left superior vena cava Blue sclerae Abdominal situs inversus Microdontia Heterotaxy Abnormal bleeding Interrupted aortic arch Bruising susceptibility Total anomalous pulmonary venous return Thin vermilion border Urethral stenosis Velopharyngeal insufficiency Anterior creases of earlobe Hip dislocation Common atrium Displacement of the external urethral meatus Thin skin Pharyngitis Porokeratosis Erysipelas Neutrophilia Optic neuritis Cervical lymphadenopathy Serositis Gait disturbance Aplasia/Hypoplasia of the thymus Tremor Hyperreflexia Spasticity Alopecia Bilateral trilobed lungs Subependymal cysts Osteoarthritis Abnormality of the face Increased IgA level Hemoptysis Abnormal heart valve morphology Fragile skin Abnormal joint morphology Scleroderma Hypoplastic left heart Prematurely aged appearance Esophageal atresia Narrow nasal bridge Sprengel anomaly Premature loss of teeth Alopecia of scalp Obsessive-compulsive behavior Subarachnoid hemorrhage Abnormal eyelash morphology Transposition of the great arteries Macule Subcutaneous nodule Osteolysis Telangiectasia Gingival overgrowth Cardiac arrest Congenital hip dislocation Joint dislocation Dyslexia Tinnitus Aplasia/Hypoplasia of the eyebrow Abnormality of the urinary system Hypokalemia Double outlet right ventricle Abnormality of immune system physiology Rheumatoid arthritis Melanocytic nevus Neuritis Chills Transient ischemic attack Iris coloboma Postaxial hand polydactyly Renal cyst Highly arched eyebrow Nephropathy Fever Fatigue Pneumonia Abnormal pattern of respiration Rod-cone dystrophy Oral cleft Abdominal pain Arthralgia Abnormality of eye movement Coloboma Aplasia/Hypoplasia of the cerebellar vermis Congenital hepatic fibrosis Erythema Molar tooth sign on MRI Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Chronic kidney disease Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Nephronophthisis Abnormality of the hypothalamus-pituitary axis Occipital encephalocele Biparietal narrowing Abnormality of abdomen morphology Neoplasm of the liver Esophageal varix Cerebellar vermis hypoplasia Pallor Nyctalopia Recurrent aphthous stomatitis Episodic fever Leukocytosis Hypermelanotic macule Elevated erythrocyte sedimentation rate Colitis Amyloidosis Subcapsular cataract Uveitis Apathy Peripheral visual field loss Poor coordination Posterior subcapsular cataract Acrocyanosis Cerebellar hypoplasia Peritonitis Intestinal obstruction Urticaria Skin rash Limitation of joint mobility Cough Papule Infertility Abnormality of the eye Lymphadenopathy Nausea Aciduria Agenesis of corpus callosum Dehydration Optic disc pallor Polydactyly Recurrent pneumonia Vasculitis Conjunctivitis Narrow nose Gingivitis Corneal erosion Meningioma Osteomalacia Renal cell carcinoma Severe vision loss Overweight Increased reactive oxygen species production Gangrene Neoplasm of the endocrine system Freckling Myocardial fibrosis Brain neoplasm Astrocytoma Aqueductal stenosis Parathyroid adenoma Pheochromocytoma Multiple cafe-au-lait spots Tibial bowing Night sweats Incoordination Sensorimotor neuropathy Intractable diarrhea Atherosclerosis Venous thrombosis Reduced bone mineral density Breast carcinoma Sarcoma Neurofibromas Back pain Precocious puberty Clitoral hypertrophy Sensory axonal neuropathy Hypophosphatemia Pulmonary fibrosis Complete atrioventricular canal defect Paraganglioma Brachydactyly Acute promyelocytic leukemia Villous atrophy Rectovaginal fistula Encephalocele Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Plexiform neurofibroma Ureteral duplication Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Tibial pseudoarthrosis Brow ptosis Axillary freckling Single ventricle Carcinoid tumor Lisch nodules Secretory diarrhea Nasolacrimal duct obstruction Glioma Protracted diarrhea Renal phosphate wasting Chronic myelogenous leukemia Neoplasm of the central nervous system Pseudoarthrosis Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Dural ectasia Epigastric pain Soft tissue sarcoma Bone pain Hypsarrhythmia Aortic dissection Arteriovenous fistula Abnormal oral frenulum morphology Abnormality of the gingiva Colonic diverticula Internal hemorrhage Arterial dissection Cigarette-paper scars Absent earlobe Dermal translucency Narrow face Peripheral arteriovenous fistula Normal pressure hydrocephalus Pulmonary artery aneurysm Gingival recession Coronary artery aneurysm Gastrointestinal infarctions Ascending tubular aorta aneurysm Spontaneous pneumothorax Aplasia/Hypoplasia of the earlobes Periodontitis Abnormally large globe Hematochezia Stridor Osteolytic defects of the phalanges of the hand Reduced consciousness/confusion Aplasia/Hypoplasia of the abdominal wall musculature Excessive wrinkled skin Bladder diverticulum Abnormality of the genitourinary system Periorbital edema Premature loss of primary teeth Ocular pain Abnormality of hair texture Molluscoid pseudotumors Foot acroosteolysis Abnormality of the cardiovascular system Mandibular prognathia Abnormality of the pinna Hydronephrosis Autistic behavior Paralysis Leukemia High forehead Genu valgum Weight loss Facial asymmetry Paresthesia Peripheral axonal neuropathy Recurrent fractures Lymphoma Midface retrusion Neurological speech impairment Hyperactivity Arterial rupture Hemothorax Uterine rupture Uterine prolapse Arteriovenous fistulas of celiac and mesenteric vessels Hypoplastic lacrimal duct Cystocele Premature delivery because of cervical insufficiency or membrane fragility Hypermobility of distal interphalangeal joints Poor speech Anemia Peripheral neuropathy Situs inversus totalis Stereotypy Depressed nasal ridge Smooth philtrum Increased corneal curvature


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