Brachydactyly, and Infertility

Diseases related with Brachydactyly and Infertility

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


Top matches:

Medium match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

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Other less relevant matches:

Low match 3M SYNDROME


3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Low match CHIME SYNDROME


CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match OOCYTE MATURATION DEFECT 1; OOMD1


The zona pellucida is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It is vital for the production of oocytes in early development, for fertilization, and for protection of early embryos before implantation. Absence of the zona pellucida in OOMD1 results in sterility (summary by Huang et al., 2014). Genetic Heterogeneity of Oocyte Maturation DefectsAlso see OOMD2 (OMIM ), caused by mutation in the TUBB8 gene (OMIM ) on chromosome 10p15; OOMD3 (OMIM ), caused by mutation in the ZP3 gene (OMIM ) on chromosome 7q11; OOMD4 (OMIM ), caused by mutation in the PATL2 gene (OMIM ) on chromosome 15q21; and OOMD5 (OMIM ), caused by mutation in the WEE2 gene (OMIM ) on chromosome 7q34.

OOCYTE MATURATION DEFECT 1; OOMD1 Is also known as oomd

Related symptoms:

  • Infertility


SOURCES: OMIM MENDELIAN

More info about OOCYTE MATURATION DEFECT 1; OOMD1

Top 5 symptoms//phenotypes associated to Brachydactyly and Infertility

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Infertility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Epicanthus Global developmental delay Ptosis Thick lower lip vermilion Myopia Ventricular septal defect Muscular hypotonia Short neck Hypotrichosis Clinodactyly of the 5th finger Feeding difficulties Hydronephrosis High palate Clinodactyly Thick vermilion border Abnormal heart morphology Acute lymphoblastic leukemia Pectus excavatum Sparse hair Broad forehead Thrombocytopenia Abnormality of cardiovascular system morphology Dilatation Postnatal growth retardation Generalized hypotonia Leukemia Pulmonic stenosis Hypogonadism Cognitive impairment Seizures Sensorineural hearing impairment Male infertility Cryptorchidism Triangular face Abnormality of the dentition Webbed neck Growth delay Nystagmus Malar flattening Decreased fertility Midface retrusion Hypertelorism

Rare Symptoms - Less than 30% cases


Shield chest Otitis media Joint hypermobility Cubitus valgus Cystic hygroma Abnormality of blood and blood-forming tissues Multiple lentigines Joint hyperflexibility Synovitis Amegakaryocytic thrombocytopenia Superior pectus carinatum Reduced factor XII activity Neurofibrosarcoma Scoliosis Delayed skeletal maturation Abnormality of the lymphatic system Tetralogy of Fallot Upslanted palpebral fissure Polydactyly Obesity Hypertension Peripheral pulmonary artery stenosis Transposition of the great arteries Growth abnormality Depressed nasal ridge Microdontia Short palm Camptodactyly Conductive hearing impairment Brachycephaly Wide nasal bridge Scapular winging Hip dislocation Joint laxity Hydrocephalus Frontal bossing Unilateral ptosis Arnold-Chiari malformation Enlarged thorax Myeloproliferative disorder Acute leukemia Thickened nuchal skin fold Pulmonary artery stenosis Atrioventricular canal defect Abnormal dermatoglyphics Failure to thrive in infancy Short nose Polyhydramnios Downslanted palpebral fissures Patent ductus arteriosus Coarctation of aorta Neoplasm Amenorrhea Proptosis Dental malocclusion Abnormal bleeding Constipation Atrial septal defect Synophrys High, narrow palate Low posterior hairline Rod-cone dystrophy Bruising susceptibility Cataract Anemia Low-set, posteriorly rotated ears Micrognathia Low-set ears Hypertrophic cardiomyopathy Kyphoscoliosis Gastroesophageal reflux Hernia Wide intermamillary distance Narrow palpebral fissure Amblyopia Azoospermia Primary amenorrhea Edema Microcephaly Intellectual disability, mild Lymphedema Flat face Protruding tongue Downturned corners of mouth Postaxial polydactyly Thrombocytosis Double outlet right ventricle Microtia Anal atresia Umbilical hernia Developmental regression Hypoplastic iliac wing Acute monocytic leukemia Senile plaques Hypothyroidism Single transverse palmar crease Neutropenia Polycythemia Narrow palate Alzheimer disease Hydroureter Breast carcinoma Renal hypoplasia/aplasia Sandal gap Broad palm Prematurely aged appearance Abnormality of immune system physiology Impaired pain sensation Cholelithiasis Bilateral single transverse palmar creases Aganglionic megacolon Congenital hypothyroidism Open mouth Type II diabetes mellitus Neurofibrillary tangles Macroglossia Postural instability Plagiocephaly Gait disturbance Narrow mouth Abnormality of epiphysis morphology Brittle hair Recurrent skin infections Palmoplantar hyperkeratosis Abnormality of the outer ear Widely spaced teeth Osteolysis Skin ulcer Joint contracture of the hand Tall stature Erythroderma Broad-based gait Fine hair Progressive sensorineural hearing impairment Ectodermal dysplasia Bifid uvula Hypodontia Short foot Anemia of inadequate production Ichthyosis Overfolded helix Large hands Dementia Duplicated collecting system Recurrent infections Pulmonary edema Prominent nasal bridge Low-set nipples Aplasia/Hypoplasia of the phalanges of the toes Violent behavior Pulmonary valve atresia Aplasia/Hypoplasia of the phalanges of the hand Clubbing of toes Aplastic clavicle Abnormality of dental morphology Ureteropelvic junction obstruction Aplasia/Hypoplasia of the nipples Retinal coloboma Long foot Hypoplastic nipples Increased number of teeth Bilateral sensorineural hearing impairment Large for gestational age Keratitis Hypoxemia Round ear Complete atrioventricular canal defect Short thumb Aortic aneurysm Nasal speech Dermal atrophy Deep philtrum Progressive hearing impairment Cutis laxa Spontaneous abortion Leukodystrophy Sinusitis Short phalanx of finger Mixed hearing impairment Recurrent otitis media Pulmonary arterial hypertension Sloping forehead Cerebral calcification Memory impairment Underdeveloped nasal alae Asthma Wide nose Short distal phalanx of finger Emphysema Recurrent sinusitis Respiratory tract infection Obstructive lung disease Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Tracheal atresia Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Abdominal aortic aneurysm Epiphyseal stippling Papillary thyroid carcinoma Short nail Shortening of all distal phalanges of the fingers Thyroid carcinoma Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Chronic sinusitis Irregular vertebral endplates Long face Carcinoma Short middle phalanx of the 5th finger Acute megakaryocytic leukemia Holoprosencephaly Abnormality of the hair Congenital diaphragmatic hernia Narrow forehead Microcornea Hypermetropia Blepharophimosis Telecanthus Microphthalmia Left-to-right shunt Cupped ear Short philtrum Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Premature ovarian insufficiency Hypoplasia of the uterus Macrotia Retinal degeneration Respiratory failure Osteoporosis Recurrent respiratory infections Alopecia Optic atrophy External genital hypoplasia Anosmia Renal cyst Retinal dystrophy Nyctalopia Short finger Reduced visual acuity Syndactyly Blindness Abnormal lacrimal duct morphology Abnormality of the breast Premature atrial contractions Female infertility Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Corneal opacity Prominent eyelashes Coloboma Decreased body weight Bilateral ptosis Radioulnar synostosis Abnormality of the urinary system Coarse hair Posteriorly rotated ears Hypogonadotrophic hypogonadism Aortic valve stenosis Cafe-au-lait spot Abnormality of the genital system Pleural effusion Mitral regurgitation Abdominal pain Mitral valve prolapse Delayed puberty Neurological speech impairment Pectus carinatum Feeding difficulties in infancy Hepatosplenomegaly Coarse facial features Abnormality of the thorax Melanocytic nevus Abnormal cardiac septum morphology High anterior hairline Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix Abnormality of the testis Premature skin wrinkling Myopathic facies Splenomegaly Headache Abnormality of the mouth Aortic root aneurysm Thoracic scoliosis Curly hair Abnormality of digit Prolonged bleeding time Abnormality of coagulation High forehead Facial asymmetry Elevated circulating luteinizing hormone level Neurofibromas Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Abnormality of the vertebral column Clumsiness Abnormality of color vision Restrictive cardiomyopathy Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Left ventricular hypertrophy Myelodysplasia Patent foramen ovale Elevated alkaline phosphatase Pterygium Poor suck Atrial flutter Ventricular hypertrophy Arrhythmia Nasogastric tube feeding Talipes equinovarus Dysphagia Dysarthria Hepatomegaly Muscle weakness Failure to thrive Abdominal distention Postductal coarctation of the aorta Preductal coarctation of the aorta Reduced factor XIII activity Schwannoma Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Thickened helices Abnormality of the pulmonary artery Wide mouth Joint dislocation Slender long bone Short thorax Mild short stature Hypoplasia of the ulna Rocker bottom foot Neonatal respiratory distress Short long bone Spina bifida occulta Abnormality of dental enamel Thin ribs Congenital hip dislocation Pointed chin Short ribs Narrow face Abnormality of the metaphysis Decreased testicular size Delayed eruption of teeth Everted lower lip vermilion Thick eyebrow Disproportionate short stature Abnormality of the elbow Confusion Moderate hearing impairment Erythema Abnormality of the kidney Congenital hypoplastic anemia Abnormality of the nervous system Abnormal spermatogenesis Autism Hyperkeratosis Cerebral cortical atrophy Reduced sperm motility Prominent forehead Short 5th finger Cerebral atrophy Bicuspid aortic valve Cleft palate Increased vertebral height Hypoplastic pubic bone Horizontal ribs Hypoplastic ischia Abnormality of the cerebral vasculature Hypoplastic pelvis Bulbous nose Micromelia Congestive heart failure Abnormal platelet function Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Prominent nasolabial fold Hyperkeratosis pilaris Reduced factor XI activity Pulmonary lymphangiectasia Abnormal anterior segment morphology Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Vomiting Chylothorax Abnormal hair quantity Abnormal nipple morphology Abnormal lymphatic vessel morphology Dolichocephaly Long philtrum Small for gestational age Protruding ear Hyperlordosis Pain Pes planus Skeletal dysplasia Mandibular prognathia Severe short stature Hypospadias Fever Abnormal atrial septum morphology Kyphosis Respiratory distress Anteverted nares Abnormality of the skeletal system Cardiomyopathy Intrauterine growth retardation Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Cartilaginous ossification of larynx



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