Abnormality of the skeletal system, and Clinodactyly

Diseases related with Abnormality of the skeletal system and Clinodactyly

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Clinodactyly 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 MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24


Related symptoms:

  • Microcephaly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Cerebellar vermis hypoplasia
  • Finger clinodactyly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24

Low match 46,XY SEX REVERSAL 9; SRXY9


46,XY SEX REVERSAL 9; SRXY9 Is also known as 46,xy sex reversal, zfpm2-related

Related symptoms:

  • Hydrocephalus
  • Clinodactyly
  • Abnormal heart morphology
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about 46,XY SEX REVERSAL 9; SRXY9

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 45; MRX45


Related symptoms:

  • Intellectual disability
  • Short stature
  • High palate
  • Clinodactyly
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 45; MRX45

Low match ISOLATED CONGENITAL ADERMATOGLYPHIA


Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.

ISOLATED CONGENITAL ADERMATOGLYPHIA Is also known as congenital absence of fingerprints|immigration delay disease|fingerprints, absence of

Related symptoms:

  • Flexion contracture
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Ectodermal dysplasia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ISOLATED CONGENITAL ADERMATOGLYPHIA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

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 SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS


Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS Is also known as escc|esophageal epidermoid carcinoma|esophageal squamous cell carcinoma

Related symptoms:

  • Feeding difficulties in infancy
  • Cough
  • Nausea and vomiting
  • Lymphadenopathy
  • Chest pain


SOURCES: ORPHANET MENDELIAN

More info about SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Low match TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME


Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.

TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME Is also known as tall stature-scoliosis-macrodactyly of the halluces syndrome

Related symptoms:

  • Scoliosis
  • Osteopenia
  • Arachnodactyly
  • Hip dysplasia
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Clinodactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Finger clinodactyly Uncommon - Between 30% and 50% cases
Short stature Rare - less than 30% cases
Arachnodactyly Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Clinodactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Syndactyly Pes planus Clinodactyly of the 5th finger Otosclerosis Nausea and vomiting Cough Feeding difficulties in infancy Progressive conductive hearing impairment Synostosis of carpals/tarsals Tarsal synostosis Broad foot Carpal synostosis Chest pain Overlapping toe Abnormality of the foot Conductive hearing impairment Pain Hearing impairment Small epiphyses Metaphyseal irregularity Small nail Wide intermamillary distance Lymphadenopathy Scoliosis Abnormality of the voice Macrodactyly Short proximal phalanx of thumb Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Poor motor coordination Short distal phalanx of the thumb Short 2nd finger Short proximal phalanx of finger Short middle phalanx of the 5th finger Delayed speech and language development Proximal femoral epiphysiolysis Long hallux Clinodactyly of the 5th toe Irregular vertebral endplates Slender finger Long fingers Broad hallux Coxa valga Tall stature Hip dysplasia Osteopenia Severe short stature Esophageal carcinoma Platyspondyly Adermatoglyphia Pectus excavatum Retinal dystrophy Autism Abnormal heart morphology Hydrocephalus Congenital microcephaly Cerebellar vermis hypoplasia Microcephaly External genital hypoplasia Anosmia Renal cyst Retinal degeneration Ambiguous genitalia Nyctalopia Reduced visual acuity Polydactyly Hypogonadism Rod-cone dystrophy Obesity Abnormality of the dentition Blindness Cognitive impairment Autistic behavior Gonadal dysgenesis Intellectual disability, mild Hyperhidrosis Acral blistering Cryptorchidism Palmar hyperkeratosis Milia Clubbing Pterygium Hypohidrosis Ectodermal dysplasia Hyperkeratosis Flexion contracture Hydrocele testis Large hands Thick vermilion border Prominent nasal bridge Protruding ear Abnormality of the pinna Macrotia High palate Fused labia minora Sex reversal Short distal phalanx of the 2nd finger



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