Brachydactyly, and Intellectual disability, mild

Diseases related with Brachydactyly and Intellectual disability, mild

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


Top matches:

Medium match FEINGOLD SYNDROME TYPE 2


Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly|fs2|fglds2|brunner-winter syndrome type 2|brachydactyly-short stature-microcephaly syndrome|microcephaly-digital anomalies-normal intelligence syndrome type 2|microcephaly-intellectual disability-tracheoes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FEINGOLD SYNDROME TYPE 2

Medium match WEILL-MARCHESANI SYNDROME


Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

Medium match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

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Other less relevant matches:

Medium 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

Medium match LOWRY-WOOD SYNDROME


Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

LOWRY-WOOD SYNDROME Is also known as lowry-wood syndrome|lws|epiphyseal dysplasia-microcephaly-nystagmus syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Nystagmus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LOWRY-WOOD 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

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

Medium match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Medium match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Top 5 symptoms//phenotypes associated to Brachydactyly and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Cataract Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Depressed nasal bridge Mitral regurgitation Brachycephaly Upslanted palpebral fissure Delayed skeletal maturation Joint stiffness Abnormal facial shape Global developmental delay Ectopia lentis Aortic valve stenosis Thickened skin High myopia Shallow orbits Pulmonic stenosis Ventricular septal defect Scoliosis Myopia

Rare Symptoms - Less than 30% cases


Broad palm Broad ribs Hypoplasia of the maxilla Misalignment of teeth Lumbar hyperlordosis Narrow palate Thin bony cortex Abnormality of dental morphology Spinal canal stenosis Proportionate short stature Abnormal heart morphology Broad metatarsal High forehead Patent ductus arteriosus Blindness Nystagmus Visual impairment Rod-cone dystrophy Thin upper lip vermilion Microspherophakia Posteriorly rotated ears Long philtrum Short nose Seizures Low-set ears Sensorineural hearing impairment Alopecia Sparse scalp hair Broad metacarpals Shallow anterior chamber Broad skull Abnormality of the dentition Growth delay Broad phalanges of the hand Short thumb Clinodactyly Dislocated radial head Hypertelorism Radioulnar synostosis Diabetes mellitus Mandibular prognathia Macrotia Mild short stature Thin vermilion border Broad eyebrow Alopecia universalis Hypothyroidism Flat face Tapered finger Tented upper lip vermilion Cerebellar atrophy Anteverted nares Hypertension Delayed cranial suture closure Strabismus Motor delay Pericarditis Arnold-Chiari type I malformation Delayed speech and language development Low-set, posteriorly rotated ears Abnormal nasal morphology Abnormality of skeletal morphology Broad philtrum Short corpus callosum Deeply set eye Broad thumb Sparse hair Camptodactyly Osteoporosis Mitral valve prolapse Aplasia/Hypoplasia of the eyebrow Ptosis Epicanthus Wide nasal bridge Downslanted palpebral fissures Malar flattening Cerebral atrophy Midface retrusion Narrow mouth Microtia Broad nasal tip Nail dystrophy Congenital cataract Broad distal phalanx of finger Smooth philtrum Wide nasal base Broad columella Congenital hypothyroidism Corneal dystrophy Progressive hearing impairment Short palpebral fissure Delayed myelination Sparse body hair Shallow acetabular fossae Intellectual disability, progressive Type II diabetes mellitus Hyperkeratosis Carious teeth Delayed puberty Hirsutism Muscle cramps Macroglossia Narrow forehead Epidermal acanthosis Patellar aplasia Hypertrichosis Subcutaneous nodule Insulin resistance Generalized hirsutism Accelerated skeletal maturation Acanthosis nigricans Polycystic ovaries Hyperinsulinemia Obesity Cortical gyral simplification Generalized hyperpigmentation Visual loss Abnormality of the skeletal system Syndactyly Abnormal vertebral morphology Cutaneous syndactyly Short middle phalanx of finger Aplasia of the middle phalanx of the hand Abnormality of cardiovascular system morphology Limitation of joint mobility Mesomelia Micrognathia Intrauterine growth retardation Clinodactyly of the 5th finger Short metacarpal Convex nasal ridge Abnormality of the ribs Finger clinodactyly Hypoplasia of the radius Increased number of teeth Insulin-resistant diabetes mellitus Hypergonadotropic hypogonadism Abnormality of nail color Patellar dislocation Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Tapetoretinal degeneration Multiple joint dislocation Squared iliac bones Muscular hypotonia Limited elbow extension Flexion contracture Intellectual disability, severe Hyperhidrosis Photophobia EEG abnormality Ichthyosis Falls Split hand Congenital nystagmus Elbow dislocation Growth hormone excess Hip dislocation Ketoacidosis Prolactin excess Macroorchidism Menstrual irregularities Generalized hypertrichosis Arthralgia Small for gestational age Platyspondyly Epiphyseal dysplasia Genu valgum Astigmatism Hip dysplasia Abnormality of epiphysis morphology Abnormality of retinal pigmentation Joint dislocation Coxa vara Aplasia/Hypoplasia of the corpus callosum Craniofacial asymmetry



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