Brachydactyly, and Abnormality of cardiovascular system morphology

Diseases related with Brachydactyly and Abnormality of cardiovascular system morphology

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


Top matches:

Low match BRACHYDACTYLY, TYPE E2; BDE2


Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

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 SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME


Related symptoms:

  • Brachydactyly
  • Midface retrusion
  • Osteoarthritis
  • Short thumb
  • Developmental stagnation


SOURCES: ORPHANET MENDELIAN

More info about SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

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Other less relevant matches:

Low match MAL DE MELEDA


Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

MAL DE MELEDA Is also known as keratosis palmoplantaris transgrediens of siemens|meleda disease|transgrediens palmoplantar keratoderma of siemens

Related symptoms:

  • Brachydactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAL DE MELEDA

Low match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Low match SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17

Low 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

Low match MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4


Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Pain
  • Brachydactyly
  • Clinodactyly
  • Pes planus


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4

Low match BARDET-BIEDL SYNDROME 18; BBS18


BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 18; BBS18

Low match BRACHYDACTYLY, TYPE D; BDD


This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]

BRACHYDACTYLY, TYPE D; BDD Is also known as stub thumb

Related symptoms:

  • Brachydactyly
  • Short distal phalanx of finger
  • Short phalanx of finger
  • Broad distal phalanx of finger
  • Broad distal phalanx of the thumb


SOURCES: OMIM MESH MENDELIAN

More info about BRACHYDACTYLY, TYPE D; BDD

Top 5 symptoms//phenotypes associated to Brachydactyly and Abnormality of cardiovascular system morphology

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Cognitive impairment Rare - less than 30% cases
Polydactyly Rare - less than 30% cases
Rod-cone dystrophy Rare - less than 30% cases
Clinodactyly Rare - less than 30% cases
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Other less frequent symptoms

Patients with Brachydactyly and Abnormality of cardiovascular system morphology. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Obesity Retinal dystrophy Intellectual disability Pulmonic stenosis Short ribs Myopia Lateral clavicle hook Aortic valve stenosis Ectopia lentis Thoracic dysplasia Increased intraocular pressure Joint stiffness Cleft lip Oral cleft Narrow chest Microspherophakia Respiratory insufficiency Sick sinus syndrome Left ventricular noncompaction Sinus bradycardia Ventricular extrasystoles Ventricular fibrillation Atrioventricular block Shallow anterior chamber Conductive hearing impairment Hearing impairment Progressive conductive hearing impairment Type D brachydactyly Broad distal phalanx of the thumb Broad distal phalanx of finger Short phalanx of finger Short distal phalanx of finger Stage 5 chronic kidney disease Renal insufficiency Visual impairment Cataract Synostosis of carpals/tarsals Pain Otosclerosis Broad foot Carpal synostosis Tarsal synostosis Overlapping toe Finger clinodactyly Abnormality of the foot Cardiac arrest Pes planus Aortic regurgitation Ventricular hypertrophy Bradycardia Nyctalopia Developmental stagnation Short thumb Osteoarthritis Midface retrusion External genital hypoplasia Anosmia Renal cyst Retinal degeneration Reduced visual acuity Hyperkeratosis Hypogonadism Syndactyly Abnormality of the dentition Blindness Cryptorchidism Short metatarsal Oligodontia Short metacarpal Delayed eruption of teeth Hyperhidrosis Erythema Left ventricular hypertrophy Congenital symmetrical palmoplantar keratosis Palpitations Atrial fibrillation Mitral valve prolapse Syncope Sudden cardiac death Vertigo Congestive heart failure Fatigue Hyperkeratosis with erythema Ichthyosis Ainhum Diffuse palmoplantar keratoderma Concave nail Thick nail Subungual hyperkeratosis Fragile nails Abnormality of the mouth Palmoplantar hyperkeratosis Palmoplantar keratoderma Broad distal phalanx of the hallux



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