Brachydactyly, and Hypogonadism

Diseases related with Brachydactyly and Hypogonadism

In the following list you will find some of the most common rare diseases related to Brachydactyly and Hypogonadism 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

Medium 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

Medium match ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD


ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD Is also known as chondrodysplasia, acromesomelic, with or without genital anomalies

Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Hypogonadism
  • Amenorrhea


SOURCES: OMIM MESH MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD

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Other less relevant matches:

Medium 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

Medium match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Medium match ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Low match ACRODYSOSTOSIS


Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

Low match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Low 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypogonadism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypergonadotropic hypogonadism 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 Hypogonadism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Obesity Cognitive impairment Brachycephaly Mandibular prognathia Short toe Global developmental delay External genital hypoplasia Hearing impairment Epicanthus Polydactyly Syndactyly Rod-cone dystrophy

Rare Symptoms - Less than 30% cases


Microcephaly Strabismus Neoplasm Hypertelorism Melanocytic nevus Wide nasal bridge Bruising susceptibility Growth delay Muscular hypotonia Cone-shaped epiphysis Delayed skeletal maturation Alopecia Ichthyosis Depressed nasal bridge Anteverted nares Spinal canal stenosis Short metacarpal Accelerated skeletal maturation Short metatarsal Sparse scalp hair Midface retrusion Renal cyst Hypoplasia of the ulna Retinal dystrophy Anosmia Retinal degeneration Postaxial polydactyly Short phalanx of finger Mild short stature Leukemia Microphthalmia Abnormality of cardiovascular system morphology Thrombocytopenia Abnormal heart morphology Small for gestational age Blindness Abnormality of skin pigmentation Neutropenia Renal agenesis Hypotelorism Pancytopenia Short thumb Cafe-au-lait spot Bone marrow hypocellularity Horseshoe kidney Ectopic kidney Absent thumb Anemia Tarsal synostosis Reticulocytopenia Fair hair Hyperactivity Autism Round face Growth hormone deficiency Specific learning disability Hypocalcemia Increased intracranial pressure Congenital hypothyroidism Blue irides Hyperphosphatemia Congenital craniofacial dysostosis Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Red hair Hypoplastic vertebral bodies Elevated calcitonin Cerebral venous thrombosis Narrow vertebral interpedicular distance Low urinary cyclic AMP response to PTH administration Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Absent radius Chromosomal breakage induced by crosslinking agents Duplicated collecting system Premature ovarian insufficiency Decreased body weight Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Cutis laxa Hyperextensible skin Redundant skin Increased susceptibility to fractures Aortic aneurysm High pitched voice High myopia Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Thick lower lip vermilion Narrow forehead Complete duplication of thumb phalanx Osteoporosis Hypospadias Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA High palate Macrocephaly Downslanted palpebral fissures Long philtrum Dilatation Hernia Retrognathia Overgrowth Coarse facial features Umbilical hernia Pes planus Joint laxity Sparse hair Joint hypermobility Hirsutism Thick vermilion border Everted lower lip vermilion Single transverse palmar crease Diabetes mellitus Abnormality of female external genitalia Malar flattening Arachnodactyly Bilateral talipes equinovarus Cataract Radial deviation of finger Frontal bossing Hydrocephalus Disproportionate short-limb short stature Glaucoma Telecanthus Carious teeth Iris coloboma Hypoplasia of the uterus Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Abnormality of the genital system Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Short femoral neck Y-shaped metacarpals Seizures Micropenis Carpal synostosis Broad foot Ulnar deviation of the hand Fibular aplasia Aplasia/Hypoplasia involving the metacarpal bones Aplasia of the proximal phalanges of the hand Widened proximal tibial metaphyses Short finger Renal insufficiency Stage 5 chronic kidney disease Mesoaxial polydactyly Situs inversus totalis Cone/cone-rod dystrophy Polydipsia Polyuria Foot polydactyly Postaxial foot polydactyly Undetectable electroretinogram Hyposmia Bilateral postaxial polydactyly Plantar pits Primary amenorrhea Intrauterine growth retardation Reduced visual acuity Delayed eruption of teeth Hypoplasia of the maxilla Depressed nasal ridge Open mouth Abnormal form of the vertebral bodies Abnormality of the nail Nyctalopia Abnormality of the metacarpal bones Hypoplasia of the radius Clinodactyly Short nose Open bite Abnormality of immune system physiology Abnormality of the dentition Epiphyseal stippling Abnormality of the ulna Menstrual irregularities Disproportionate short stature Abnormality of the radius Delayed speech and language development Micromelia Peripheral neuropathy Limb undergrowth Photophobia Amenorrhea Talipes equinovarus Flexion contracture Intellectual disability, severe Intellectual disability, mild Severe vision loss Macular dystrophy Hyperhidrosis Macrotia EEG abnormality Short corpus callosum Falls Visual impairment Split hand Intellectual disability, progressive Aplasia/Hypoplasia of the eyebrow Sparse body hair Alopecia universalis Abnormal nasal morphology Abnormality of skeletal morphology Infra-orbital fold



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