Brachydactyly, and High myopia

Diseases related with Brachydactyly and High myopia

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


Top matches:

Medium match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

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

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Other less relevant matches:

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

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 RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Top 5 symptoms//phenotypes associated to Brachydactyly and High myopia

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Long philtrum Ectopia lentis Thickened skin Blindness Glaucoma Seizures Low-set ears Global developmental delay Generalized hypotonia Depressed nasal bridge Single transverse palmar crease Abnormal heart morphology Brachycephaly Cleft palate Broad palm Broad ribs High palate Cryptorchidism Muscular hypotonia Midface retrusion Microcephaly Sensorineural hearing impairment Pulmonic stenosis Joint stiffness Microspherophakia Micrognathia Intellectual disability, mild Ventricular septal defect Osteoporosis Mitral regurgitation Aortic valve stenosis

Rare Symptoms - Less than 30% cases


Narrow mouth Hypospadias Microretrognathia Delayed speech and language development Toe syndactyly Protruding ear Downslanted palpebral fissures Hypothyroidism Hernia Retrognathia Cerebellar hypoplasia Coarse facial features Everted lower lip vermilion Absent speech Clinodactyly of the 5th finger Camptodactyly Growth delay Hypertelorism Nail dysplasia Broad phalanges of the hand Epicanthus Neonatal hypotonia High forehead Anteverted nares Malar flattening Syndactyly Wide nasal bridge Plagiocephaly Broad skull Abnormality of dental morphology Rhizomelia Hypoplasia of the maxilla Patent ductus arteriosus Dumbbell-shaped long bone Lumbar hyperlordosis Narrow palate Micromelia Narrow chest Frontal bossing Broad metacarpals Hypoplastic scapulae Proptosis Proportionate short stature Shallow anterior chamber Spinal canal stenosis Shallow orbits Misalignment of teeth Optic atrophy Thin bony cortex Short palm Broad metatarsal Recurrent infections Iridodonesis Mydriasis Clinodactyly Inguinal hernia Anterior synechiae of the anterior chamber Rod-cone dystrophy Increased intraocular pressure Hypermetropia Gait ataxia Exotropia Mandibular prognathia Polyhydramnios Intrauterine growth retardation Gastroesophageal reflux Dolichocephaly Abnormal cardiac septum morphology Thin upper lip vermilion Behavioral abnormality Severe sensorineural hearing impairment Anemia Small nail Bulbous nose Short distal phalanx of finger Downturned corners of mouth Polyneuropathy Prominent nose Phakodonesis Abnormality of the skin Renal agenesis Dandy-Walker malformation Bilateral sensorineural hearing impairment Hypsarrhythmia Short phalanx of finger Abnormal facial shape Abnormality of the fingernails Abnormal dermatoglyphics Triphalangeal thumb Anonychia Infantile spasms Tapered finger Hypoplasia of the iris Cystic renal dysplasia Prominent nasal tip Profound sensorineural hearing impairment Ataxia Retinal hole Smooth philtrum Mild microcephaly Febrile seizures Delayed CNS myelination Chorioretinal coloboma Proximal placement of thumb Anophthalmia Bifid scrotum Preaxial hand polydactyly Short middle phalanx of finger Foot polydactyly Postaxial foot polydactyly Adrenal hypoplasia Microglossia Sclerocornea Abnormality of the hypothalamus-pituitary axis Severe muscular hypotonia Anterior hypopituitarism Lambdoidal craniosynostosis Anterior pituitary hypoplasia Abnormality of the cervical spine Female hypogonadism Inferior vermis hypoplasia Orbital cyst Uplifted earlobe Small scrotum Flexion contracture of thumb Small sella turcica Aplasia/Hypoplasia of the corpus callosum Abnormal vertebral morphology Decreased testicular size Posteriorly rotated ears Dental crowding Progressive microcephaly Cutaneous syndactyly Spondyloepiphyseal dysplasia Wide mouth Central hypothyroidism Nystagmus Failure to thrive Ventriculomegaly Microphthalmia Agenesis of corpus callosum Cerebral cortical atrophy Renal hypoplasia Polydactyly Micropenis Macrotia Craniosynostosis Coloboma Finger syndactyly Facial asymmetry Iris coloboma Postaxial polydactyly Retinal dystrophy Microcornea Bifid uvula Nail dystrophy Short thumb Respiratory tract infection Urethral stenosis Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Irregular dentition Hyperextensible skin Abnormal lip morphology Upper eyelid edema Infra-orbital fold Upper airway obstruction Short neck Respiratory insufficiency Short nose Short femur Glossoptosis Severe short stature Femoral bowing Redundant skin Cutis laxa Metaphyseal widening Ichthyosis Mitral valve prolapse Cognitive impairment Macrocephaly Dilatation Alopecia Hypogonadism Umbilical hernia Pes planus Joint laxity Sparse hair Joint hypermobility Hypergonadotropic hypogonadism Bruising susceptibility Hirsutism Thick vermilion border Overgrowth Narrow forehead Thick lower lip vermilion Sparse scalp hair Decreased body weight Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Skeletal dysplasia Abnormality of the pinna Abnormality of the nervous system Widely patent coronal suture Abnormal diaphysis morphology Hypoplastic ischia Long clavicles Anterior rib cupping Broad long bones Narrow greater sacrosciatic notches Thin clavicles Posterior rib cupping Broad ischia Pear-shaped vertebrae Posterior vertebral hypoplasia Bifid tongue Widely patent sagittal suture Premature birth Feeding difficulties Peripheral neuropathy Limitation of joint mobility Respiratory distress Cerebral atrophy Hyporeflexia Recurrent respiratory infections Visual loss Abnormality of cardiovascular system morphology Metaphyseal cupping Hypoplastic fingernail Camptodactyly of finger Wide anterior fontanel Pectus carinatum Platyspondyly Flat face Small hand Short foot Round face Limb undergrowth Abnormality of the ribs Abnormality of the metaphysis Abnormal form of the vertebral bodies Omphalocele Hydrops fetalis Hearing abnormality Joint contracture of the hand Short ribs Short long bone Patent foramen ovale Hypoplastic toenails Thoracic hypoplasia Thin ribs Fibular hypoplasia Protuberant abdomen Megalocornea Bell-shaped thorax Aplasia of the optic tract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Vertigo, related diseases and genetic alterations Cleft palate and Retrognathia, related diseases and genetic alterations Growth delay and Nevus, related diseases and genetic alterations Generalized hypotonia and Microphthalmia, related diseases and genetic alterations Short stature and Facial asymmetry, related diseases and genetic alterations Abnormality of the skeletal system and Congenital cataract, related diseases and genetic alterations

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