Arthritis, and Retrognathia

Diseases related with Arthritis and Retrognathia

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


Top matches:

Medium match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Medium match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

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Other less relevant matches:

Medium match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Medium match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Medium match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low 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

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Top 5 symptoms//phenotypes associated to Arthritis and Retrognathia

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Retrognathia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Kyphoscoliosis

Common Symptoms - More than 50% cases


Osteoarthritis

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Pes planus

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Ptosis Mitral valve prolapse Exotropia Abnormality of the skeletal system Generalized hypotonia Hernia Dilatation Proptosis Skeletal dysplasia Malar flattening Hypertelorism Cataract Motor delay Obesity Joint laxity Abnormal facial shape Arachnodactyly Bifid uvula Ectopia lentis Pectus excavatum Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Muscular hypotonia Inguinal hernia Global developmental delay Kyphosis Atrial septal defect Flexion contracture Short neck Retinal detachment Strabismus Hydrocephalus Meningocele Dolichocephaly Pectus carinatum High, narrow palate Rheumatoid arthritis Abnormal heart morphology Tetralogy of Fallot Seizures Microcephaly Behavioral abnormality Recurrent infections Thrombocytopenia Smooth philtrum Disproportionate tall stature Abnormality of cardiovascular system morphology Joint hypermobility Mitral regurgitation Tall stature Arnold-Chiari malformation Abnormality of the sternum Aortic root aneurysm Spondylolisthesis Graves disease Bicuspid aortic valve Posteriorly rotated ears Edema Immunodeficiency Clinodactyly Patent ductus arteriosus Growth delay Hypothyroidism Respiratory distress Pain Midface retrusion Depressed nasal bridge Macrocephaly Genu valgum Joint dislocation Hyperlordosis Conductive hearing impairment Umbilical hernia Glaucoma

Rare Symptoms - Less than 30% cases


Bipolar affective disorder Macrotia Vitiligo Hypoparathyroidism Premature osteoarthritis Hydronephrosis Respiratory tract infection Failure to thrive Truncus arteriosus Myelomeningocele Pulmonic stenosis Depressivity Joint hyperflexibility Posterior embryotoxon Vitreoretinopathy Autoimmune thrombocytopenia Sandal gap Cholelithiasis Epiphora Psoriasiform dermatitis Bowing of the long bones Broad thumb Coxa valga Microretrognathia Unilateral renal agenesis Vesicoureteral reflux Amblyopia Abnormality of the hand Acne Thoracic hypoplasia Inflammation of the large intestine Autoimmune hemolytic anemia Growth hormone deficiency Frontal bossing Iris coloboma Short nose Respiratory insufficiency Retinal vascular tortuosity Dural ectasia Cystic medial necrosis Conotruncal defect Rhegmatogenous retinal detachment Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Ascending tubular aorta aneurysm Sacral meningocele Visual loss Gastroesophageal reflux Stroke Microphthalmia Short philtrum Astigmatism Thoracic aortic aneurysm Duodenal stenosis Hypospadias Seborrheic dermatitis Nasal speech Clinodactyly of the 5th finger Gait disturbance Camptodactyly Craniosynostosis Facial asymmetry Juvenile rheumatoid arthritis Aplasia of the uterus Impaired T cell function Interrupted aortic arch Aortic aneurysm Myopathic facies Perimembranous ventricular septal defect Dilatation of the cerebral artery Tricuspid valve prolapse Right aortic arch Short metacarpal Short metatarsal Schizophrenia Amenorrhea Short distal phalanx of finger Specific learning disability Abnormality of the metaphysis Recurrent otitis media Joint contracture of the hand Aortic regurgitation Cerebral hemorrhage Rhizomelia Decreased muscle mass Reduced subcutaneous adipose tissue Autoimmunity High myopia Celiac disease Blindness Coronal cleft vertebrae Blue sclerae Overgrowth Round face Abnormal cardiac septum morphology Cognitive impairment Nyctalopia Fever Hypoplasia of the corpus callosum Bulbous nose Neonatal hypotonia Hypoplastic pelvis Short thorax Renal agenesis Small for gestational age Flared metaphysis Hemolytic anemia Chorea Long face Coxa vara Bruising susceptibility Anemia Delayed speech and language development Soft skin Hip dislocation Narrow chest Postnatal growth retardation Abnormality of the kidney Severe short stature Purpura High forehead Narrow mouth Abnormality of the pinna Misalignment of teeth Joint stiffness Intrauterine growth retardation Hiatus hernia Retinopathy Visual impairment Hypocalcemia Blepharophimosis Epicanthus Aortic dissection Low posterior hairline Micromelia Primary amenorrhea Platyspondyly Arterial tortuosity Spina bifida Ascending aortic dissection Renal dysplasia Open mouth Congenital cataract Mental deterioration Unilateral primary pulmonary dysgenesis Psychotic episodes Generalized tonic-clonic seizures Hypertonia Low-set ears Microtia Neoplasm Perineal fistula Telecanthus Central nervous system degeneration Vascular ring Congenital conductive hearing impairment Attention deficit hyperactivity disorder Cleft lip Unilateral lung agenesis Abnormality of the endocrine system Velopharyngeal insufficiency Anal stenosis Holoprosencephaly Dysdiadochokinesis Apathy Narrow palpebral fissure Obsessive-compulsive behavior Multicystic kidney dysplasia Hypoplasia of the brainstem Abnormality of the ear Basal ganglia calcification Axonal loss Hallucinations Submucous cleft hard palate Hearing abnormality Giant platelets Psychosis Delusions Pierre-Robin sequence Echolalia Peripheral demyelination Pulmonary artery atresia Underdeveloped nasal alae Platybasia Mood swings Cat cry Paranoia Dysmetria Anal atresia Macrodontia Mandibular prognathia Polymicrogyria Laryngomalacia Weak cry Narrow nasal bridge Abnormality of the hip bone Truncal obesity Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Reduced number of teeth Recurrent skin infections Thoracic scoliosis Venous thrombosis Leukopenia Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Long eyelashes Clumsiness Lumbar hyperlordosis Decreased fetal movement Subcapsular cataract Peripheral visual field loss Pigmentary retinopathy Hemeralopia Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bull's eye maculopathy Granulocytopenia Congenital neutropenia Hyperplasia of the maxilla Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Narrow palm Posterior subcapsular cataract Bone spicule pigmentation of the retina Macular edema Narrow philtrum Chorioretinal dysplasia Furrowed tongue High-pitched cry Thick corpus callosum Deep venous thrombosis Prominent eyelashes Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Narrow forehead Progressive visual loss Coarctation of aorta Esophoria Cerebellar hypoplasia Cardiomyopathy Optic atrophy Cryptorchidism Sensorineural hearing impairment Nystagmus Type I truncus arteriosus Parathyroid agenesis Macrodontia of permanent maxillary central incisor Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Childhood-onset truncal obesity Diabetes mellitus Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Hypoplastic philtrum Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Short palpebral fissure Rod-cone dystrophy Reduced visual acuity Convex nasal ridge Thick eyebrow Otitis media Aciduria Prominent nose Hypoplasia of the maxilla Microcornea Aggressive behavior Single transverse palmar crease Tapered finger Highly arched eyebrow Small hand Thick vermilion border Retinal dystrophy Abnormality of skin pigmentation Iris atrophy Retinal degeneration Delayed puberty Synophrys Severe global developmental delay Neurological speech impairment Finger syndactyly Prominent nasal bridge Wide mouth Paralysis Protruding ear Feeding difficulties in infancy Intellectual disability, moderate Thin upper lip vermilion Neutropenia Overbite Anxiety Long upper lip Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Vertebral clefting Radioulnar dislocation Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Irregular vertebral endplates Protuberant abdomen Cystic hygroma Broad first metatarsal Medial deviation of the foot Short femoral neck Sagittal craniosynostosis Muscle weakness Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Long thorax Unilateral ptosis Dermal translucency Long toe High anterior hairline Splayed fingers Narrow nose Scaphocephaly Rhinitis Atrophic scars Hallux valgus Finger clinodactyly Eczema Postaxial hand polydactyly Asthma Thin vermilion border Broad forehead Congenital glaucoma Metaphyseal widening Myopathy Bell-shaped thorax Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Lens luxation Enlarged thorax Enlarged joints Hypoplastic ilia Disproportionate short-trunk short stature Tracheal stenosis Delayed epiphyseal ossification Glossoptosis Hyporeflexia Tracheomalacia Hip contracture Arthropathy Chorioretinal atrophy Spondyloepiphyseal dysplasia Neonatal respiratory distress Abnormality of epiphysis morphology Membranous vitreous appearance Erosive vitreoretinopathy Posterior vitreous detachment Abnormal vitreous humor morphology Abnormal cartilage collagen Brachycephaly Genu varum Osteoporosis Disproportionate short-limb short stature Horseshoe kidney Depressed nasal ridge Wide intermamillary distance Nail dysplasia Waddling gait Abdominal distention Renal cyst Flat face Osteopenia Respiratory failure Anteverted nares Arthrogryposis multiplex congenita Brachydactyly Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Cleft soft palate Broad face Long palpebral fissure Patent foramen ovale Atrioventricular block Syncope Peripheral neuropathy Congestive heart failure Hyperactivity Renal hypoplasia Limited elbow extension Long fingers Delayed cranial suture closure Ectopic kidney Melanocytic nevus Prominent supraorbital ridges Coarse hair Hoarse voice Wide anterior fontanel Omphalocele Pulmonary arterial hypertension Atrioventricular canal defect Abnormality of the ribs Oligohydramnios Intestinal malrotation Nevus Full cheeks Delayed eruption of teeth Prominent forehead Recurrent respiratory infections Pneumonia Hypertension Inferior oblique muscle overaction Tibial bowing Short humerus Mitral annular calcification Megacystis Dementia Absent speech Cerebellar atrophy Intellectual disability, severe Anterior concavity of thoracic vertebrae Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Urethral atresia Short clavicles Long neck Prune belly Ureteral stenosis Sclerosis of skull base Complete atrioventricular canal defect Craniofacial hyperostosis Small face Abnormal cortical bone morphology Osteolytic defects of the phalanges of the hand Hypoplastic scapulae Cone-shaped epiphyses of the phalanges of the hand Medial rotation of the medial malleolus Pulmonary artery dilatation Arrhythmia Dental crowding Rocker bottom foot Hammertoe Heart murmur Congenital contracture Redundant skin Back pain Sleep apnea Narrow palate Spontaneous abortion Elbow flexion contracture Narrow face Decreased body weight Emphysema Abnormal lung morphology Cardiomegaly Abnormality of the cardiovascular system Esotropia Dental malocclusion Chest pain Polyneuropathy Peripheral axonal neuropathy Apnea Deeply set eye Pes cavus Large for gestational age Open bite Incisional hernia Pneumothorax Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Microspherophakia Hypertropia Flat cornea Hypopnea Protrusio acetabuli Endocarditis Hypoplasia of the musculature Homocystinuria Restrictive ventilatory defect Low back pain Pulmonary edema Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Striae distensae Slender finger Slender toe



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