Brachydactyly, and Mandibular prognathia

Diseases related with Brachydactyly and Mandibular prognathia

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


Top matches:

Medium match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE


Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

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

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Other less relevant matches:

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

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 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

Medium 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

Medium match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Medium 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

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Mandibular prognathia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short neck Posteriorly rotated ears Brachycephaly Depressed nasal bridge Malar flattening Hyperlordosis Platyspondyly Lumbar hyperlordosis Diabetes mellitus Rhizomelia Epicanthus Cryptorchidism Short metatarsal Short metacarpal Abnormality of the dentition Intellectual disability, mild Wide nasal bridge Joint laxity Low-set ears Short toe Accelerated skeletal maturation Hearing impairment

Rare Symptoms - Less than 30% cases


Scoliosis Menstrual irregularities Spinal canal stenosis Autism Cone-shaped epiphysis Myopia Kyphosis Kyphoscoliosis Peripheral neuropathy Short phalanx of finger Open mouth Metaphyseal irregularity Broad phalanx Neoplasm Carious teeth Strabismus Melanocytic nevus Hypogonadism Anteverted nares Mild short stature Thin upper lip vermilion Narrow mouth Cerebral atrophy Short nose Abnormal facial shape Hyperactivity Sensorineural hearing impairment Iris coloboma Cataract Seizures Metaphyseal widening Barrel-shaped chest Acanthosis nigricans Intrauterine growth retardation Short finger Generalized hirsutism Coarse facial features Polycystic ovaries Abnormality of the nail Obesity Growth hormone excess Severe short stature Hypoplastic ilia Disproportionate short stature Ovoid vertebral bodies Thoracic kyphosis Metaphyseal dysplasia Small epiphyses J-shaped sella turcica Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Shallow acetabular fossae Rocker bottom foot Atlantoaxial dislocation Cervical cord compression Cervical subluxation Hypoplastic iliac body Delayed speech and language development Hypospadias Flared metaphysis Hypotelorism Elbow flexion contracture Abnormality of immune system physiology Delayed eruption of teeth Hypoplasia of the maxilla Depressed nasal ridge Abnormal form of the vertebral bodies Thickened skin Abnormality of the metacarpal bones Hypoplasia of the radius Dry skin Hypoplasia of the ulna Open bite Proteinuria Aortic valve stenosis Epiphyseal stippling Abnormality of the ulna Abnormality of female external genitalia Abnormality of the radius Anemia Flexion contracture Respiratory insufficiency Hypotrichosis Hypodontia Tetraplegia Round face Macrotia Growth hormone deficiency Focal-onset seizure Constipation Rod-cone dystrophy Gastroesophageal reflux Coloboma Short philtrum Hypermetropia Astigmatism Downturned corners of mouth Broad nasal tip Delayed myelination Bilateral sensorineural hearing impairment Abnormality of cardiovascular system morphology Congenital diaphragmatic hernia Cerebral visual impairment Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Abnormal electroretinogram Focal impaired awareness seizure Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Hernia Behavioral abnormality Specific learning disability Elevated calcitonin Hypocalcemia Increased intracranial pressure Congenital hypothyroidism Blue irides Fair hair Hyperphosphatemia Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Red hair Hypoplastic vertebral bodies Cerebral venous thrombosis Blindness Narrow vertebral interpedicular distance Low urinary cyclic AMP response to PTH administration Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Congenital craniofacial dysostosis Generalized hypotonia Microcephaly High palate Feeding difficulties Optic atrophy Hypoplasia of the corpus callosum Micromelia Shallow orbits Coarse hair Hypoplasia of the odontoid process Genu valgum Small hand Limitation of joint mobility Vertebral clefting Limb undergrowth Decreased body weight Irregular epiphyses Spondyloepimetaphyseal dysplasia Limited elbow extension Hypoplastic pelvis Pes planus Disproportionate short-trunk short stature Myelopathy Broad femoral neck Thoracolumbar kyphosis Flattened epiphysis Proportionate short stature Broad metatarsal Arthralgia of the hip Atlantoaxial instability Small forehead Pectus carinatum Arthralgia Mesomelia Hyperinsulinemia Hirsutism Muscle cramps Macroglossia Narrow forehead Type II diabetes mellitus Epidermal acanthosis Hypertrichosis Subcutaneous nodule Insulin resistance Hyperkeratosis Increased number of teeth Functional respiratory abnormality Generalized hyperpigmentation Insulin-resistant diabetes mellitus Ketoacidosis Prolactin excess Macroorchidism Generalized hypertrichosis Pain Absent nasal cartilage Abnormality of the skeletal system Absent nasal bridge Flattened femoral head Relative macrocephaly Craniofacial asymmetry Thin vermilion border Prematurely aged appearance Upslanted palpebral fissure Abnormality of the thyroid gland High forehead Precocious puberty Camptodactyly Microtia Nail dystrophy Congenital cataract Smooth philtrum Flat face Downslanted palpebral fissures Tapered finger Sparse scalp hair Tented upper lip vermilion Radioulnar synostosis Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Delayed puberty Broad philtrum Broad eyebrow Long philtrum Thick nail Hoarse voice Macrocephaly Broad thumb Frontal bossing Hydrocephalus Low-set, posteriorly rotated ears Glaucoma Telecanthus Arachnodactyly Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Vertebral fusion Ptosis Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Female pseudohermaphroditism Abnormality of the abdominal wall Abnormality of the upper urinary tract Advanced eruption of teeth Long penis Hypoglycemic seizures



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