Brachydactyly, and Increased body weight

Diseases related with Brachydactyly and Increased body weight

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


Top matches:

Medium 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 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 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 SALDINO-MAINZER SYNDROME


Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Increased body weight

Symptoms // Phenotype % cases
Obesity Very Common - Between 80% and 100% cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Polydactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Increased body weight. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


External genital hypoplasia Postaxial polydactyly Retinal dystrophy Renal insufficiency Cryptorchidism Short stature Hypogonadism Stage 5 chronic kidney disease

Rare Symptoms - Less than 30% cases


Hirsutism Global developmental delay Delayed puberty Visual impairment Hypoplasia of penis Cataract Syndactyly Blindness Anosmia Abnormality of the dentition Type II diabetes mellitus Nyctalopia Renal cyst Retinal degeneration Delayed eruption of teeth Abnormality of the skull Muscle cramps Carious teeth Macrotia Mandibular prognathia Hyperkeratosis Diabetes mellitus Intellectual disability, mild Hypertelorism Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Abnormality of the endocrine system Underdeveloped supraorbital ridges Abnormality of the elbow High forehead Prematurely aged appearance Truncal obesity Reduced number of teeth Hypercholesterolemia Short toe Hypohidrosis Hypoglycemia Osteoarthritis Depressed nasal ridge Blue sclerae Macroglossia Microdontia High pitched voice Increased number of teeth Narrow forehead Generalized hypertrichosis Displacement of the external urethral meatus Congenital hepatic fibrosis Hand polydactyly Bilateral single transverse palmar creases Iris coloboma Finger syndactyly Low-set, posteriorly rotated ears Brachycephaly Abnormality of cardiovascular system morphology Epicanthus Sensorineural hearing impairment Strabismus Nystagmus Ataxia Menstrual irregularities Epidermal acanthosis Polycystic ovaries Hypertrichosis Subcutaneous nodule Insulin resistance Generalized hirsutism Accelerated skeletal maturation Acanthosis nigricans Hyperinsulinemia Macroorchidism Delayed skeletal maturation Generalized hyperpigmentation Insulin-resistant diabetes mellitus Growth hormone excess Ketoacidosis Prolactin excess Severe short stature Cone/cone-rod dystrophy Motor delay Micromelia Cleft palate Horizontal ribs Lateral clavicle hook Thoracic dysplasia Bell-shaped thorax Short thorax Thoracic hypoplasia Metaphyseal widening Short long bone Abnormality of the genitourinary system Nephrocalcinosis Short ribs Ectodermal dysplasia Oral cleft Narrow chest Short neck Renal hypoplasia Clinodactyly Reduced visual acuity Macular dystrophy Severe vision loss Retinopathy Pigmentary retinopathy Tricuspid regurgitation Cleft lip Unilateral renal hypoplasia Delayed speech and language development Respiratory insufficiency Respiratory distress Recurrent respiratory infections Polyhydramnios High palate Protruding ear Abnormal facial shape Facial hirsutism Micrognathia Y-shaped metacarpals Mesoaxial polydactyly Bilateral postaxial polydactyly Hyposmia Undetectable electroretinogram Postaxial foot polydactyly Foot polydactyly Polyuria Polydipsia Situs inversus totalis Micropenis Aplasia/Hypoplasia of the fallopian tube Aplasia of the vagina Increased serum testosterone level Short philtrum Acne Synophrys Thick eyebrow Renal agenesis Amenorrhea Primary amenorrhea Cubitus valgus Unilateral renal agenesis Frontal balding Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Shield chest Aplasia of the uterus Abnormal vagina morphology Abnormality of the antitragus



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