Brachydactyly, and Hip dysplasia

Diseases related with Brachydactyly and Hip dysplasia

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


Top matches:

Medium match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

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 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

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Other less relevant matches:

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 ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Medium match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match KBG SYNDROME


KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Hip dysplasia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Attention deficit hyperactivity disorder Hearing impairment Multiple epiphyseal dysplasia Generalized hypotonia Long philtrum Anteverted nares Epiphyseal dysplasia Scoliosis Clinodactyly Clinodactyly of the 5th finger High, narrow palate Microcephaly Prominent forehead Strabismus Short neck Protruding ear Anxiety Thin upper lip vermilion Short metacarpal Constipation Downslanted palpebral fissures Frontal bossing Hyperactivity Delayed skeletal maturation Arthralgia Osteoarthritis Short middle phalanx of finger Irregular epiphyses

Rare Symptoms - Less than 30% cases


Short palm Aplasia cutis congenita Smooth philtrum Autistic behavior Sparse hair Synophrys Abnormality of the dentition Abnormality of the skeletal system Hip osteoarthritis Broad nasal tip Flat occiput Feeding difficulties Spastic diplegia Small nail Umbilical hernia Long palpebral fissure Inguinal hernia Abnormal heart morphology Hernia Syndactyly Ventricular septal defect Hypertension Motor delay Aggressive behavior Pseudoepiphyses Joint hypermobility Gastroesophageal reflux Short distal phalanx of finger Epicanthus Sacral dimple Short philtrum Retrognathia Proptosis Posteriorly rotated ears Midface retrusion Delayed eruption of teeth Short nose Hypodontia Abnormality of epiphysis morphology Depressed nasal bridge Single transverse palmar crease Low-set ears Cryptorchidism Micrognathia Growth delay High palate Delayed speech and language development Pain Intrauterine growth retardation Hypoplasia of the corpus callosum Kyphosis Macrotia Premature osteoarthritis Oligodontia Elbow dislocation Rod-cone dystrophy Short femoral neck Mild short stature Spondyloepiphyseal dysplasia Genu valgum Joint stiffness Abnormality of the hand Cleft palate Gait disturbance Joint dislocation Nystagmus Avascular necrosis of the capital femoral epiphysis Intellectual disability, mild Small epiphyses Talipes equinovarus Hip dislocation Micromelia Coxa vara Severe short stature Round face Skeletal dysplasia Small hand Intellectual disability, moderate Cervical ribs Otitis media Underdeveloped nasal alae Macrodontia Triangular face Deeply set eye Myopia Prominent nasal bridge Thick eyebrow Osteopenia Dystonia Tremor Cerebellar hypoplasia Dysphagia Recurrent ear infections Neurological speech impairment Cerebellar atrophy Ventriculomegaly Low anterior hairline Ataxia Hypoplastic labia minora Increased number of teeth Capillary hemangioma Anodontia Hypoplastic labia majora Bifid tongue Femoral hernia Fingernail dysplasia Epispadias Median cleft lip and palate Clitoral hypoplasia Abnormality of the gingiva Vertebral fusion Curly eyelashes Low posterior hairline Mixed hearing impairment Ridged fingernail Widely-spaced maxillary central incisors Radial deviation of finger Abnormality of the penis Euryblepharon Short long bone Rib fusion Abnormal vertebral morphology Naevus flammeus of the eyelid Onychogryposis of fingernail Hypoplasia of dental enamel Telecanthus Brachycephaly Postnatal growth retardation High forehead Prominent coccyx Thickened ears Broad chin Prominent protruding coccyx Talipes cavus equinovarus Abnormality of the septum pellucidum Failure to thrive Abnormal facial shape Chronic constipation Atrial septal defect Absent speech Thoracic kyphosis Deep philtrum Kyphoscoliosis Megalocornea Coarse facial features Conductive hearing impairment Plagiocephaly Narrow palpebral fissure Finger clinodactyly Wormian bones Low-set, posteriorly rotated ears Wide mouth Thick vermilion border Short foot Stereotypy Tapered finger Dandy-Walker malformation Thick lower lip vermilion Infantile spasms Sleep-wake cycle disturbance Autism Cerebellar vermis hypoplasia Broad face Sparse scalp hair Beaking of vertebral bodies Abnormality of cardiovascular system morphology Testicular torsion Diaphragmatic eventration Periventricular leukomalacia Abnormality of eye movement Long face Bulbous nose Hirsutism Tics Eczema Pointed chin Short digit Microretrognathia Reduced tendon reflexes Delayed gross motor development Prominent supraorbital ridges Chronic otitis media Oral-pharyngeal dysphagia Large forehead Depressed nasal tip Gait imbalance High anterior hairline Arachnoid cyst Thickened helices Nasolacrimal duct obstruction Toenail dysplasia Caesarian section Sagittal craniosynostosis Open bite Shallow acetabular fossae Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Visual impairment Small for gestational age Platyspondyly Astigmatism Abnormality of retinal pigmentation Aplasia/Hypoplasia of the corpus callosum Limited elbow extension Dislocated radial head Congenital nystagmus Patellar dislocation Tapetoretinal degeneration Multiple joint dislocation Knee pain Squared iliac bones Abnormality of nail color Muscle weakness Myopathy Congestive heart failure Splenomegaly Encephalopathy Proximal muscle weakness Abnormal cardiac septum morphology Stroke Severe global developmental delay Abnormality of the cerebral white matter Pulmonic stenosis Hepatic failure Limited elbow flexion Hip subluxation Coarctation of aorta Irregular vertebral endplates Joint hyperflexibility Cone-shaped epiphysis Metaphyseal dysplasia Short 1st metacarpal Short middle phalanx of the 5th finger Hyperextensibility of the finger joints Delayed ossification of carpal bones Hip pain Pseudoepiphyses of the metacarpals Limitation of joint mobility Waddling gait Short phalanx of finger Disproportionate short-limb short stature Genu varum Delayed epiphyseal ossification Flat capital femoral epiphysis Arthritis Abnormality of the knee Short finger Bilateral talipes equinovarus Metatarsus adductus Metaphyseal irregularity Growth abnormality Rigidity Ovoid vertebral bodies Flexion contracture Muscular hypotonia Limited hip movement Short fourth metatarsal Broad femoral neck Generalized joint laxity Ascites Pulmonary arterial hypertension Coxa valga Macrocephaly Hepatic fibrosis Bone marrow hypocellularity Recurrent pneumonia Cutis laxa Cone/cone-rod dystrophy Chronic kidney disease Nephronophthisis Cutaneous finger syndactyly Elevated serum creatinine Broad distal phalanx of finger Pes valgus Broad phalanx of the toes Ptosis Wide nasal bridge Hypospadias Ectodermal dysplasia Alopecia Upslanted palpebral fissure Camptodactyly of finger Pectus carinatum Finger syndactyly Wide nose Downturned corners of mouth Specific learning disability Hypoplasia of penis Blue sclerae Abnormal form of the vertebral bodies Long eyelashes Gingival overgrowth Hemivertebrae Limb undergrowth Asthma Ventricular hypertrophy Aplasia cutis congenita of scalp Hyperammonemia Ischemic stroke Patent foramen ovale Portal hypertension Cutis marmorata Abnormality of the coagulation cascade Oligodactyly Progressive proximal muscle weakness Right ventricular hypertrophy Dystrophic toenail Calcinosis Prominent superficial veins Esophageal varix Right ventricular failure Cavernous hemangioma Full cheeks Pneumonia Nephropathy Thin vermilion border Stage 5 chronic kidney disease Narrow chest Hypermetropia Craniosynostosis Renal insufficiency Hypersplenism Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Vertebral arch anomaly



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