Brachydactyly, and Round face

Diseases related with Brachydactyly and Round face

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


Top matches:

Medium match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

Medium match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

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Other less relevant matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Medium match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Medium match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Medium match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

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 PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Round face

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Short metacarpal Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short phalanx of finger Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Round face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Obesity Joint stiffness Short metatarsal Global developmental delay Depressed nasal bridge Short nose Growth delay Short palm Pseudohypoparathyroidism Abnormal facial shape Epiphyseal dysplasia Cryptorchidism Mild short stature Short foot Cone-shaped epiphysis Abnormality of the skeletal system Midface retrusion Malar flattening Small hand

Rare Symptoms - Less than 30% cases


Full cheeks Accelerated skeletal maturation Thickened skin Thick vermilion border Increased intracranial pressure Autism Hoarse voice Ectopic calcification Severe short stature Mandibular prognathia Hyperactivity Diabetes mellitus Osteoarthritis Hypospadias Intrauterine growth retardation Delayed speech and language development Ovoid vertebral bodies Nystagmus Bulbous nose Fair hair Congenital hypothyroidism Spondyloepiphyseal dysplasia Frontal bossing Cognitive impairment Long eyelashes Spinal canal stenosis Hearing impairment Narrow mouth Genu valgum Skeletal dysplasia Hypertelorism Blue irides Multiple epiphyseal dysplasia Red hair Pneumonia Long philtrum Short neck Downturned corners of mouth Thick eyebrow Pain Abnormal cardiac septum morphology Coarse facial features Gastroesophageal reflux Proptosis Brachycephaly Osteoporosis Short 4th metacarpal Aggressive behavior Delayed eruption of teeth Cerebral calcification Abnormal lung morphology Optic atrophy Hypoplasia of dental enamel Impulsivity Patent ductus arteriosus Vesicoureteral reflux Growth hormone deficiency Abnormal vertebral morphology Hypothyroidism Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Congenital craniofacial dysostosis Hypertension Epicanthus Clinodactyly of the 5th finger Hypoplasia of the maxilla Narrow vertebral interpedicular distance Asthma Underdeveloped nasal alae Eczema Type I diabetes mellitus Rhinitis Cone-shaped epiphyses of the phalanges of the hand Low urinary cyclic AMP response to PTH administration Cerebral venous thrombosis Aspiration Recurrent aspiration pneumonia Horseshoe kidney Laryngomalacia Aspiration pneumonia Tracheal stenosis Chronic lung disease Thick hair Scoliosis Elevated calcitonin Hypogonadism Specific learning disability Short toe Hypocalcemia Hyperphosphatemia Elevated circulating parathyroid hormone level Hypoplastic vertebral bodies Generalized hypotonia Moderately short stature Internal notch of the femoral head Limb undergrowth Asteroid hyalosis Hepatomegaly Wide nasal bridge Respiratory failure Dyspnea Apnea Mitral regurgitation Retinal dysplasia Sleep apnea Pulmonary artery stenosis Subglottic stenosis Gait disturbance Arthralgia Micromelia Limitation of joint mobility Retinal thinning Anonychia Hip dysplasia Short 5th finger Talipes equinovarus Atrial septal defect Prominent forehead Toe syndactyly Hemangioma Bilateral talipes equinovarus Fibular hypoplasia Lower limb asymmetry Coxa valga Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Unilateral ulnar hypoplasia Myopia Conductive hearing impairment Flat face Waddling gait Joint dislocation Fifth metacarpal with ulnar notch Thick lower lip vermilion Upper limb asymmetry Multiple impacted teeth Type E brachydactyly Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Delayed skeletal maturation Respiratory tract infection Abnormality of epiphysis morphology Short distal phalanx of finger Narrow palpebral fissure Short long bone Deep philtrum Decreased nerve conduction velocity Abnormal eyebrow morphology Abnormality of femur morphology Constrictive median neuropathy Short clavicles Joint hypermobility Disproportionate short-limb short stature Small epiphyses Genu varum Short femoral neck Irregular vertebral endplates Delayed epiphyseal ossification Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Broad femoral neck Joint hyperflexibility Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement Ataxia Macrocephaly Chronic rhinitis



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