Brachydactyly, and Aortic valve stenosis

Diseases related with Brachydactyly and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Brachydactyly and Aortic valve stenosis that can help you solving undiagnosed cases.


Top matches:

Medium match WEILL-MARCHESANI SYNDROME 3; WMS3


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Myopia
  • Joint stiffness
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 3; WMS3

Medium match WEILL-MARCHESANI SYNDROME


Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

Medium match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

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Other less relevant matches:

Medium match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Medium match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Medium match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Medium match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Medium match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Aortic valve stenosis

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Ventricular septal defect Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pulmonic stenosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Aortic valve stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Thickened skin Mitral regurgitation Lumbar hyperlordosis Hydrocephalus Intellectual disability, mild Patent ductus arteriosus Short neck Ectopia lentis Global developmental delay Myopia Kyphosis Short distal phalanx of finger Hypertelorism Midface retrusion Abnormal facial shape Wide nose Hearing impairment Short toe Wide intermamillary distance Toe syndactyly Skeletal dysplasia Ventriculomegaly Abnormality of the skeletal system Seizures Generalized hypotonia Cleft palate Failure to thrive Glaucoma Joint stiffness Abnormal heart morphology Shallow anterior chamber Microspherophakia High myopia Depressed nasal bridge Brachycephaly

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Narrow forehead Thin vermilion border Esotropia Thick vermilion border Downturned corners of mouth Prominent nasal bridge Macrocephaly Aggressive behavior Deeply set eye Hyperactivity Syndactyly Hypertonia Supernumerary nipple Hypoplasia of the corpus callosum High palate Low-set ears Osteopenia Narrow palpebral fissure Self-injurious behavior Cognitive impairment Short metacarpal Muscular hypotonia Microcephaly Anteverted nares Bilateral single transverse palmar creases Sparse and thin eyebrow Bowing of the long bones Hernia Inguinal hernia Coarse facial features Highly arched eyebrow Joint hyperflexibility Umbilical hernia Sparse hair Thick eyebrow Finger syndactyly Talipes Conductive hearing impairment Pes planus Arthralgia Long philtrum Talipes equinovarus Pulmonary arterial hypertension Mitral stenosis Micrognathia Broad metatarsal Hyperlordosis Kyphoscoliosis Flexion contracture Neoplasm Osteoporosis Blindness Broad skull Broad metacarpals Thin bony cortex Rhizomelia Broad ribs Misalignment of teeth Shallow orbits Spinal canal stenosis Proportionate short stature Broad palm Abnormality of dental morphology Narrow palate Platyspondyly Broad phalanges of the hand Thoracic kyphosis Small epiphyses Hypoplasia of the capital femoral epiphysis Hypoplasia of the maxilla Generalized hirsutism Strabismus Thrombocytopenia Dilatation Microphthalmia Atrial septal defect Intrauterine growth retardation Hypertension Growth delay Cerebellar hypoplasia Self-biting Pain insensitivity Abnormal aortic morphology Broad columella Subvalvular aortic stenosis Broad face Alopecia Increased intraocular pressure Low hanging columella Premature birth Hemiparesis Small nail Coarctation of aorta Tetralogy of Fallot Nail dysplasia Gastrointestinal hemorrhage Ascites Abnormality of the skull Polymicrogyria Cirrhosis Cleft upper lip Leukemia Abnormality of the kidney EEG abnormality Renal neoplasm Overweight Encephalocele Absent frontal sinuses Abnormality of the mandible Congenital diaphragmatic hernia Eczema Underdeveloped nasal alae Round face Rough bone trabeculation Broad nasal tip Broad-based gait Sleep disturbance Short foot Hypoplastic 5th lumbar vertebrae Small hand Limitation of joint mobility Short palm Sparse scalp hair Stereotypy Tracheomalacia Abnormality of the fingernails Visual loss Mild short stature Obsessive-compulsive behavior Nephroblastoma Hypoplasia of the zygomatic bone Pyloric stenosis Short metatarsal Platybasia Periodontitis Laryngomalacia Decreased skull ossification Short chin Biconcave vertebral bodies Multicystic kidney dysplasia Short phalanx of finger Split hand Pachygyria Low anterior hairline Acrania Downslanted palpebral fissures Wide nasal bridge Hepatomegaly Peripheral neuropathy Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Imperforate hymen Splenomegaly Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Abnormality of the dentition Headache Aplastic/hypoplastic toenail Dry skin Skin ulcer Bone pain Intestinal malrotation Full cheeks Recurrent fractures Iris coloboma Delayed puberty Hypospadias Synophrys Dolichocephaly Pectus carinatum Telecanthus Narrow mouth Arnold-Chiari malformation Recurrent respiratory infections Absent hand Coarse hair Telangiectasia Cortical dysplasia Aplasia cutis congenita Syringomyelia Multiple renal cysts Cutaneous finger syndactyly Patellar dislocation Aplasia/Hypoplasia of the skin Hypoplastic left heart Central hypotonia Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Osteolysis Oligodactyly Pulmonary artery stenosis Abnormality of the voice Esophageal varix Open bite Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Abnormality of the upper limb Double outlet right ventricle Pulmonary artery atresia Hypoplastic fingernail Wormian bones Abnormality of the lower limb Arteriovenous malformation Prominent occiput Calvarial skull defect Meningitis Upslanted palpebral fissure Short thumb Otosclerosis Tetraplegia Hypotelorism Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Overlapping fingers Hypodontia Narrow nose Epiphyseal stippling Long fingers Broad hallux Ectopic kidney Overlapping toe Motor delay Hypotrichosis Overfolded helix Genu valgum Microdontia Waddling gait Delayed eruption of teeth Anemia Respiratory insufficiency Mandibular prognathia Hip dislocation Pectus excavatum Broad forehead Microtia Camptodactyly of finger Camptodactyly Arthritis Severe short stature Delayed skeletal maturation 2-3 toe syndactyly Sacral dimple Mitral valve prolapse Congestive heart failure Polyhydramnios Cerebral cortical atrophy Polydactyly Delayed ossification of carpal bones Posteriorly rotated ears Agenesis of corpus callosum Shallow acetabular fossae Ovoid vertebral bodies J-shaped sella turcica Atlantoaxial dislocation Broad phalanx Cervical cord compression Cervical subluxation Hypoplastic iliac body Hypoplastic ilia Muscular hypotonia of the trunk Microretrognathia Single transverse palmar crease Elbow flexion contracture Metaphyseal widening Dandy-Walker malformation Metaphyseal irregularity Rocker bottom foot Hypopigmentation of the skin Flared metaphysis Low-set, posteriorly rotated ears Short finger Bulbous nose Long face Ichthyosis Smooth philtrum Disproportionate short stature Metaphyseal dysplasia Limb undergrowth Ventricular hypertrophy Attention deficit hyperactivity disorder Anisospondyly Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Intervertebral space narrowing Sensorineural hearing impairment Narrow vertebral interpedicular distance Sclerotic vertebral endplates Shoulder dislocation Multiple joint dislocation Knee dislocation Decreased hip abduction Fixed elbow flexion Pain Spinal deformities Cryptorchidism Scarring Blepharophimosis Autistic behavior Feeding difficulties in infancy Thin upper lip vermilion Autism Prominent forehead Feeding difficulties Clinodactyly of the 5th finger Hyporeflexia Arrhythmia Obesity Malar flattening Behavioral abnormality Frontal bossing Abnormality of the carpal bones Frontal upsweep of hair Abnormal form of the vertebral bodies Cubitus valgus Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Spondyloepiphyseal dysplasia Tricuspid regurgitation Heart murmur Sparse eyebrow Short thorax Elbow dislocation Delayed gross motor development Widely spaced teeth Aortic regurgitation Spina bifida occulta Joint dislocation Spina bifida Short femoral neck Limited elbow extension Ulnar bowing Short 4th metacarpal Flattened epiphysis Coronal cleft vertebrae Irregular epiphyses Shield chest Enlarged joints Disproportionate short-trunk short stature High anterior hairline Tibial bowing Barrel-shaped chest Abnormality of the elbow Irregular vertebral endplates Short humerus Arthropathy Thin ribs Vertebral fusion Partial absence of toe



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