Hypertension, and Iris coloboma

Diseases related with Hypertension and Iris coloboma

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

Top matches:

Medium match COLOBOMA OF IRIS

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

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

Medium match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Medium match TRIPLE A SYNDROME

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Is also known as familial thoracic aortic aneurysm with livedo reticularis and iris flocculi

Related symptoms:

  • Hypertension
  • Dilatation
  • Patent ductus arteriosus
  • Coloboma
  • Myocardial infarction


SOURCES: OMIM MESH MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6

Top 5 symptoms//phenotypes associated to Hypertension and Iris coloboma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Coloboma Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Iris coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Syndactyly Low-set ears Polydactyly Glaucoma Scoliosis Hearing impairment Hypertelorism Global developmental delay Strabismus Short stature Macrocephaly Abnormality of the dentition Brachydactyly Anteverted nares Epicanthus Cryptorchidism Generalized hypotonia Aganglionic megacolon Patent ductus arteriosus Hydrocephalus Growth delay Nystagmus Abnormal facial shape Spasticity Ptosis Wide nasal bridge Dilatation Seizures Muscular hypotonia Micrognathia Ataxia Ventricular septal defect Intestinal malrotation Cleft palate Failure to thrive Intellectual disability, moderate High palate Visual impairment Feeding difficulties in infancy Frontal bossing Hyperreflexia Postaxial polydactyly Bicuspid aortic valve Dental crowding Hypospadias Postaxial hand polydactyly Renal insufficiency Myopia Retrognathia Microphthalmia Telecanthus Proptosis Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases

Abnormality of the nervous system Gastroesophageal reflux Polyhydramnios Autism Adrenal insufficiency Wide mouth EEG abnormality Hyperactivity Constipation Oral cleft Hyperpigmentation of the skin Highly arched eyebrow Cerebellar hypoplasia Splenomegaly Inguinal hernia Hypoglycemia Optic atrophy Hepatic fibrosis Truncal obesity Nephronophthisis Poor coordination Septate vagina Medulloblastoma Cutis marmorata Abnormality of the ribs Self-mutilation Hepatomegaly Spina bifida occulta Exotropia Coarctation of aorta Intellectual disability, severe Renal cyst Hypotension Patellar dislocation Thick eyebrow Neoplasm Narrow mouth Skeletal dysplasia Coarse facial features Joint laxity Abnormality of the genital system Joint hypermobility Ectopic calcification Recurrent infections Recurrent fractures Decreased circulating aldosterone level Dental malocclusion Short toe Low anterior hairline Glomerulonephritis Delayed cranial suture closure Flexion contracture Long philtrum Palmoplantar keratoderma Abnormal heart morphology Sensorineural hearing impairment Multicystic kidney dysplasia Aplasia/Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the cerebellum Biparietal narrowing Cholestatic liver disease Dysarthria Arrhythmia Kyphosis Pectus excavatum Behavioral abnormality Pain Peripheral neuropathy Atrial septal defect Dysphagia Short neck Respiratory tract infection Feeding difficulties Renal agenesis Agenesis of permanent teeth Hirsutism Stage 5 chronic kidney disease Dry skin Postnatal growth retardation Pulmonic stenosis Micropenis Finger syndactyly 2-3 toe syndactyly Delayed speech and language development Abnormality of the fingernails Sparse hair Abnormality of the pinna Mandibular prognathia Hyperhidrosis Depressed nasal bridge Vesicoureteral reflux Optic nerve coloboma Aortic aneurysm Retinal dystrophy Abnormality of the urinary system Chorioretinal coloboma Ventriculomegaly Reduced visual acuity Renal hypoplasia Proximal placement of thumb Aortic dissection Irregular ossification of hand bones Tracheal stenosis Hamartomatous stomach polyps Abnormality of dental morphology Bifid ribs Excessive daytime somnolence Sex reversal Myocardial infarction Ascending tubular aorta aneurysm Premature coronary artery atherosclerosis Hyponatremia Cardiac rhabdomyoma Self-injurious behavior Bifid scrotum Unilateral renal agenesis Overlapping fingers Bifid tongue Hammertoe Clitoral hypertrophy Thoracic aortic aneurysm Epiphyseal stippling Hypopigmentation of hair Hyperkalemia Aplasia/Hypoplasia of the radius Ulnar deviation of finger Increased number of teeth Abnormality of digit Atrioventricular canal defect Abnormal lung lobation Severe intrauterine growth retardation Abnormal eyelash morphology Upper limb undergrowth Mesomelia Postaxial foot polydactyly Metatarsus adductus Precocious puberty Male pseudohermaphroditism Ovarian fibroma Plantar pits Microglossia Odontogenic keratocysts of the jaw Overlapping toe Bridged sella turcica Severe failure to thrive Cardiac fibroma Sclerocornea Carious teeth Pyloric stenosis Aggressive behavior Wide intermamillary distance Webbed neck Premature birth Hypopigmentation of the skin Sleep disturbance Pulmonary hypoplasia Micromelia Toe syndactyly Hip dislocation Attention deficit hyperactivity disorder Autistic behavior Low-set, posteriorly rotated ears Hydronephrosis Peripheral demyelination Upslanted palpebral fissure Posteriorly rotated ears Severe short stature Abnormality of cardiovascular system morphology Short nose Hypertonia Diarrhea Vomiting Edema Hypoplasia of the corpus callosum Talipes equinovarus Intrauterine growth retardation Fever Dandy-Walker malformation Limb undergrowth Poor suck Amblyopia Reduced number of teeth Optic nerve hypoplasia Abnormality of the metacarpal bones Breech presentation Scrotal hypoplasia Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Short thumb Gingival overgrowth Rhizomelia Abnormal form of the vertebral bodies Narrow forehead Split hand Choanal atresia Recurrent otitis media Ascending aortic dissection Cutaneous photosensitivity Intellectual disability, profound Moyamoya phenomenon Congenital diaphragmatic hernia Decreased fetal movement Hypoplasia of penis Oligohydramnios Ambiguous genitalia Eczema Renal hypoplasia/aplasia Aplasia/Hypoplasia affecting the eye Bicornuate uterus Palmoplantar hyperkeratosis Hemivertebrae Neoplasm of the skin Relative macrocephaly Nephritis Primary adrenal insufficiency Melanocytic nevus Inflammation of the large intestine Generalized hyperpigmentation Orthostatic hypotension Disproportionate tall stature Ectopic kidney Oral-pharyngeal dysphagia Milia Motor axonal neuropathy Spastic tetraparesis Abnormal autonomic nervous system physiology Basal cell carcinoma Long fingers Vertebral fusion Tetraparesis Colitis Abnormality of the sternum Parkinsonism Thoracic scoliosis Polyneuropathy Sprengel anomaly Narrow nose Abnormality of visual evoked potentials Hypogonadotrophic hypogonadism Fragile nails Visual loss Arachnodactyly Cleft upper lip Papule Nevus Facial palsy Cleft lip Proteinuria Carcinoma Kyphoscoliosis Abdominal pain Brachycephaly Cerebral calcification Hemiparesis Bradycardia Muscle stiffness Abnormality of the skeletal system Motor delay Adrenocorticotropin receptor defect Abnormality of the hypothenar eminence Abnormality of the calf musculature Anisocoria Plantar hyperkeratosis Alacrima Anterior hypopituitarism Decreased circulating cortisol level Achalasia Spina bifida Short ribs Tachycardia Peripheral axonal neuropathy Abnormality of the larynx Short distal phalanx of the thumb Sleep-wake cycle disturbance Abnormality of the gallbladder Ovarian carcinoma Hypoplasia of the frontal lobes Periventricular gray matter heterotopia Multiple impacted teeth Severe hydrocephalus Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Mesomelic short stature Broad alveolar ridges Gastroschisis Parietal bossing Palmar pits Increased nuchal translucency Orbital cyst Ureteropelvic junction obstruction Advanced eruption of teeth Calcification of falx cerebri Histiocytoma Hypocholesterolemia Abnormal localization of kidney Hypotrichosis Curved fingers Abnormal renal morphology Gastrointestinal dysmotility Alveolar ridge overgrowth Vertebral wedging Developmental regression Muscle weakness Down-sloping shoulders Weight loss Hyperkeratosis Dementia Skin tags Pes cavus Babinski sign Respiratory insufficiency Short 4th metacarpal Fatigue Skeletal muscle atrophy Abnormality of the neck Cognitive impairment Elevated 7-dehydrocholesterol Severe photosensitivity Abnormality of limbs Neoplasm of the endocrine system Broad face Ulcerative colitis Brain neoplasm Astrocytoma Supernumerary ribs Cervical ribs Hamartomatous polyposis Fibroma Abnormality of the sense of smell Facial capillary hemangioma Opsoclonus Neurodegeneration Unsteady gait Plantar crease between first and second toes External genital hypoplasia Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Undetectable electroretinogram Broad foot Foot polydactyly Macular dystrophy Gait disturbance Hypoplasia of the uterus Tricuspid regurgitation Radial deviation of finger Clubbing Anosmia Situs inversus totalis Left ventricular hypertrophy Primary amenorrhea Pigmentary retinopathy Amenorrhea Specific learning disability Decreased testicular size Asthma Tremor Elevated hepatic transaminase Short foot Chronic kidney disease Chronic hepatic failure Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Congenital hepatic fibrosis Abnormality of the hypothalamus-pituitary axis Esophageal varix Neoplasm of the liver Abnormality of abdomen morphology Occipital encephalocele Molar tooth sign on MRI Abnormality of neuronal migration Portal hypertension Oculomotor apraxia Apnea Encephalocele Cholestasis Cerebellar vermis hypoplasia Apraxia Gastrointestinal hemorrhage Round face Nephropathy Cirrhosis Long face Abnormality of eye movement Prominent nasal bridge Abnormality of the liver Abnormality of the eye Hypodontia High, narrow palate Malar flattening Nail dysplasia Cupped ear Abnormality of the thorax Cutaneous syndactyly Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Hypohidrosis Recurrent urinary tract infections Fine hair Hypotelorism Abnormality of the skin Delayed eruption of teeth Narrow nasal bridge Congenital cataract Nail dystrophy Microtia Blepharophimosis Protruding ear Camptodactyly Optic nerve aplasia Morning glory anomaly Remnants of the hyaloid vascular system Peters anomaly Increased intraocular pressure Microcornea Corneal opacity Multiple lipomas Aplasia cutis congenita Retinal degeneration Bilateral camptodactyly Astigmatism Paraplegia Neurological speech impairment Retinopathy Diabetes mellitus Hypogonadism Rod-cone dystrophy Obesity Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Hypoplastic helices Hypoplastic nipples Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Intrahepatic biliary atresia Headache Radial deviation of thumb terminal phalanx Dislocated radial head Abnormality of refraction Flared iliac wings Dyslexia Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Overweight Shawl scrotum Neuroblastoma Neurofibromas Pheochromocytoma Congenital glaucoma Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Narrow palate Wide anterior fontanel Cafe-au-lait spot Stereotypy Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Avascular necrosis of the capital femoral epiphysis Abnormal cornea morphology Convex nasal ridge Dyscalculia Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Chorioretinal dystrophy Nasolacrimal duct obstruction Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Low posterior hairline Otitis media Hernia Downturned corners of mouth Coarse hair Arnold-Chiari malformation Osteolysis Wormian bones Generalized hirsutism Skin ulcer Aortic valve stenosis Bone pain Thickened skin Bowing of the long bones Full cheeks Hematuria Wide nose Abnormality of the voice Short distal phalanx of finger Thin vermilion border Paresthesia Joint hyperflexibility Delayed puberty Synophrys Dolichocephaly Pectus carinatum Umbilical hernia Arthralgia Osteopenia Osteoporosis Recurrent respiratory infections Polycystic kidney dysplasia Open bite Prominent nose Basilar invagination Hypoplasia of the maxilla Single transverse palmar crease Leukemia Deeply set eye Thin upper lip vermilion Pes planus Clinodactyly of the 5th finger Delayed skeletal maturation Immunodeficiency Respiratory distress Osteolytic defects of the phalanges of the toes Partial absence of toe Hypoplastic 5th lumbar vertebrae Premature loss of permanent teeth Prominent occiput Basilar impression Flank pain Absent frontal sinuses Rough bone trabeculation Biconcave vertebral bodies Respiratory arrest Platybasia Decreased skull ossification Mitral stenosis Osteolytic defects of the phalanges of the hand Periodontitis Multiple renal cysts Syringomyelia Iris flocculi


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