Brachydactyly, and Polydactyly

Diseases related with Brachydactyly and Polydactyly

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


Top matches:

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-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 BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 3; BBS3


BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Brachydactyly
  • Blindness
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 3; BBS3

Low match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Low match SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4 Is also known as asphyxiating thoracic dystrophy 4|atd4

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4

Low match SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 Is also known as asphyxiating thoracic dystrophy 2|atd2

Related symptoms:

  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly
  • Cleft lip
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2

Low match SYNPOLYDACTYLY TYPE 1


Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Polydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 1

Low match SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18


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:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Low match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Polydactyly

Symptoms // Phenotype % cases
Postaxial polydactyly Common - Between 50% and 80% cases
Thoracic dysplasia Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Short ribs Oral cleft Syndactyly Rod-cone dystrophy Retinal dystrophy Obesity External genital hypoplasia

Rare Symptoms - Less than 30% cases


Postaxial hand polydactyly Limb undergrowth Scoliosis Clinodactyly of the 5th finger Short palm Short foot Mild short stature Broad hallux Postaxial foot polydactyly Intellectual disability Nyctalopia Cognitive impairment Blindness Retinal degeneration Abnormality of the dentition Clinodactyly Hypogonadism Ventriculomegaly Micromelia Platyspondyly Thin upper lip vermilion Hydrocephalus Polycystic kidney dysplasia Aplasia of the middle phalanx of the hand 3-4 finger syndactyly Epicanthus Hypertelorism 2nd-5th toe middle phalangeal hypoplasia 6 metacarpals Y-shaped metacarpals Contracture of the proximal interphalangeal joint of the 5th finger Mesoaxial hand polydactyly Hallux varus 4-5 toe syndactyly Intestinal malrotation Nail dysplasia Preaxial polydactyly Abnormality of the fingernails Abnormal oral frenulum morphology Single median maxillary incisor Toenail dysplasia Advanced eruption of teeth Conical tooth Overlapping fingers Abnormal toenail morphology Abnormality of the antihelix Facial cleft Hypoplastic toenails Small nail Cystic hygroma Hypotelorism Hypodontia Small hand Anal atresia Nail dystrophy Protruding ear Severe short stature Seizures Vertebral wedging Hypoplastic ischia Short middle phalanx of the 5th finger Rhizomelia Preaxial foot polydactyly Renal hypoplasia Lymphoma Leukemia Arthralgia Pectus excavatum Pain Neoplasm Unilateral renal hypoplasia Tricuspid regurgitation Pigmentary retinopathy Adducted thumb Retinopathy Global developmental delay Severe vision loss Macular dystrophy Visual impairment Lateral clavicle hook Anosmia Renal cyst Reduced visual acuity Osteoarthritis Abnormality of digit Abnormality of the hand Mesomelia Finger clinodactyly Short phalanx of finger Short distal phalanx of finger Abnormality of the foot Finger syndactyly Camptodactyly Atlantoaxial instability Spinal cord compression Broad palm Short middle phalanx of finger Patellar dislocation Cryptorchidism Short metacarpal Hepatic cysts Short long bone Stage 5 chronic kidney disease Short 2nd finger T-cell lymphoma Chronic lymphatic leukemia Lymphoproliferative disorder Prominent antihelix



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