Brachydactyly, and Microtia

Diseases related with Brachydactyly and Microtia

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


Top matches:

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

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Other less relevant matches:

Medium match HAND-FOOT-GENITAL SYNDROME


Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

Medium match PELVISCAPULAR DYSPLASIA


Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Low match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Low match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Low match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Top 5 symptoms//phenotypes associated to Brachydactyly and Microtia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Posteriorly rotated ears Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Microcephaly Talipes equinovarus Clinodactyly Midface retrusion Epicanthus Hearing impairment Seizures Depressed nasal bridge Ventricular septal defect Hypospadias Generalized hypotonia Strabismus High palate Cleft palate Micrognathia Feeding difficulties Severe short stature Ptosis Anteverted nares Micropenis Decreased testicular size Constipation Kyphoscoliosis Widely spaced teeth Renal agenesis Mesomelia Pes planus Flexion contracture Macrocephaly Cryptorchidism Telecanthus Abnormality of the kidney Abnormality of cardiovascular system morphology Abnormality of the genital system Limb undergrowth Camptodactyly Sensorineural hearing impairment Wide nasal bridge Long philtrum Malar flattening Cerebral atrophy Upslanted palpebral fissure Toe syndactyly Thin upper lip vermilion Postaxial hand polydactyly Hydronephrosis Hip dislocation Short distal phalanx of finger Tapered finger Tented upper lip vermilion Short neck

Rare Symptoms - Less than 30% cases


Genu valgum Microglossia Camptodactyly of finger Conductive hearing impairment Skeletal dysplasia Short finger Pectus excavatum Delayed skeletal maturation Clinodactyly of the 5th finger Abnormality of the outer ear Microphthalmia Vesicoureteral reflux Talipes Recurrent urinary tract infections Rhizomelia Renal dysplasia Thick eyebrow Protruding tongue Thick lower lip vermilion Hemivertebrae Drooling Infantile muscular hypotonia Radial deviation of finger Hydroureter Facial hypotonia Thick vermilion border U-Shaped upper lip vermilion Widely-spaced maxillary central incisors Renal hypoplasia Scrotal hypoplasia Bilateral cryptorchidism External genital hypoplasia Macroglossia Gastroesophageal reflux Bowing of the long bones Renal cyst Short 4th metacarpal Intrauterine growth retardation Polydactyly Cerebral cortical atrophy Anal atresia Postaxial polydactyly Bifid uvula Pneumonia Ambiguous genitalia Choanal atresia Hamartoma Spasticity Intellectual disability, severe Vomiting Hypertonia Short femoral neck Joint dislocation Dolichocephaly Narrow mouth Deeply set eye Abnormality of the dentition Broad nasal tip Downslanted palpebral fissures Mild short stature Scoliosis Pointed chin Postnatal growth retardation Short metacarpal Abnormality of the skeletal system Waddling gait Nail dysplasia Retrognathia Wide mouth Blepharophimosis Kyphosis Hyperactivity Flat face High forehead Long face Small nail Microtia, first degree Mandibular prognathia Nail dystrophy Monorchism Broad eyebrow Dysphagia Anemia Craniofacial asymmetry Oral synechia Aplasia/Hypoplasia of the mandible Absent crus of helix Microtia, third degree Pain Broad philtrum Azoospermia Shallow orbits Radioulnar synostosis Spastic diplegia Congenital cataract Smooth philtrum Thin vermilion border Coxa valga Aspiration Aganglionic megacolon Sparse scalp hair Dental malocclusion Abnormality of metabolism/homeostasis Everted lower lip vermilion Bilateral lung agenesis Irritability Intellectual disability, moderate Umbilical hernia Pericarditis Abdominal pain Arnold-Chiari type I malformation Delayed cranial suture closure Tongue nodules Rectal atresia Interphalangeal joint contracture of finger Genu varum Laryngomalacia Renal hypoplasia/aplasia Short ribs Hepatic fibrosis Myopia Encephalocele Split hand Depressed nasal ridge Diarrhea Preaxial hand polydactyly Oligohydramnios Specific learning disability Autism Anxiety High, narrow palate Autistic behavior Wide nose Pulmonary hypoplasia Oral cleft Micromelia Hand polydactyly Hypoplastic toenails Absent testis Subcortical cerebral atrophy Cerebral cortical hemiatrophy Perineal fistula Aplasia/Hypoplasia of the tibia Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Porencephalic cyst Abnormality of the ear Abnormality of the tongue Rectovaginal fistula Short tibia Median cleft lip Foot polydactyly Primary adrenal insufficiency Submucous cleft hard palate Occipital encephalocele Delayed speech and language development Abnormal joint morphology Microcytic anemia Hypochromic microcytic anemia Shawl scrotum Atresia of the external auditory canal Adrenal hypoplasia Postaxial foot polydactyly Abnormal lung lobation Oligodactyly Hypopituitarism Natal tooth Ectopic kidney Adrenal insufficiency Precocious puberty Cutaneous syndactyly Decreased circulating cortisol level Holoprosencephaly Microretrognathia Growth hormone deficiency Single transverse palmar crease Cleft upper lip Respiratory tract infection Dyspnea Respiratory failure Abnormal heart morphology Upper airway obstruction Panhypopituitarism Syndactyly Thyroid dysgenesis Mesoaxial foot polydactyly Midline facial capillary hemangioma Distal shortening of limbs Preductal coarctation of the aorta Primitive neuroectodermal tumor Bifid epiglottis Distal urethral duplication Y-shaped metacarpals Mesoaxial hand polydactyly Mesoaxial polydactyly Rib fusion Hypothalamic hamartoma Laryngeal cleft Radial head subluxation Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Bilateral choanal atresia Microphallus Vaginal atresia Patent ductus arteriosus Behavioral abnormality Male pseudohermaphroditism Reduced alpha/beta synthesis ratio Spastic paraplegia Coarse facial features Hypogonadism Obesity Optic atrophy Hyperreflexia Hypoganglionosis Hemoglobin H Endometriosis Brachycephaly Paraplegia Triangular mouth Absent frontal sinuses Abnormal hemoglobin Ileus Perimembranous ventricular septal defect Abnormality of eye movement Decreased serum testosterone level Volvulus Chronic constipation Abnormality of the foot Narrow forehead Neoplasm Lower limb hypertonia Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Talipes calcaneovalgus Bilateral renal hypoplasia Short upper lip Asplenia Intellectual disability, mild Abnormality of blood and blood-forming tissues Slender finger Cataract Encephalitis Intellectual disability, progressive Increased body weight Narrow face Exotropia Open mouth Craniosynostosis Agenesis of corpus callosum Finger syndactyly Hydrocephalus Congenital hip dislocation Elbow flexion contracture Joint contracture of the hand Short palpebral fissure Low posterior hairline Microcornea Developmental regression Abnormality of the pinna Sparse hair Small for gestational age Redundant skin Severe global developmental delay Frontal bossing Carious teeth Longitudinal vaginal septum Delayed tarsal ossification Hypoplastic fifth toenail Penile hypospadias Short 2nd toe Short first metatarsal Narrow palpebral fissure 2-3 toe syndactyly Shortening of all middle phalanges of the fingers Hydranencephaly Alveolar ridge overgrowth Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Hypoplastic ischia Long clavicles Humeroradial synostosis Wrist flexion contracture Fibular aplasia Dislocated radial head Ambiguous genitalia, male Redundant neck skin Hypoplastic ilia Short femur Hypoplastic iliac wing Hypoplastic scapulae Stenosis of the external auditory canal Osteopenia Bell-shaped thorax Ulnar deviation of the 2nd finger Hallux varus Abnormality of the skull base Breast hypoplasia Triangular face Urinary incontinence Short foot Prominent nose Renal insufficiency Type II diabetes mellitus Hypoplastic sacrum Frontal balding Clitoral hypoplasia Hypoplastic pelvis Short thumb Oligospermia Low hanging columella Disproportionate short stature Agenesis of permanent teeth Dental crowding High pitched voice Cone-shaped epiphysis Short metatarsal Relative macrocephaly Small hand Spontaneous abortion Pseudoepiphyses Short 1st metacarpal Abnormality of the urethra Uterus didelphys Small thenar eminence Pyelonephritis Chordee Ureteropelvic junction obstruction Delayed ossification of carpal bones Bicornuate uterus Abnormality of the uterus Short hallux Finger clinodactyly Short 5th finger Synostosis of carpal bones Bifid scrotum Proximal placement of thumb Abnormality of the hand Abnormality of the urinary system Downturned corners of mouth Sacral dimple Abnormal dermatoglyphics Mesomelic leg shortening Prominent protruding coccyx Short philtrum Disproportionate short-trunk short stature Frontal upsweep of hair Ulnar bowing Flattened epiphysis Hypoplasia of the capital femoral epiphysis Coronal cleft vertebrae Irregular epiphyses Shield chest Small epiphyses Enlarged joints Mitral stenosis Abnormality of the carpal bones Joint hypermobility High anterior hairline Barrel-shaped chest Abnormality of the elbow Thoracic kyphosis Irregular vertebral endplates Short humerus Arthropathy Thin ribs Spinal deformities Decreased hip abduction Tibial bowing Multiple carpal ossification centers Cleft lip Proptosis Attention deficit hyperactivity disorder Prominent nasal bridge Gingival overgrowth Recurrent respiratory infections Failure to thrive Fixed elbow flexion Deviation of the 5th finger Limited hip extension Knee dislocation Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Anisospondyly Intervertebral space narrowing Narrow vertebral interpedicular distance Sclerotic vertebral endplates Shoulder dislocation Multiple joint dislocation Vertebral fusion Limited elbow extension Absent proximal finger flexion creases Hyperlordosis Wide intermamillary distance Delayed eruption of teeth Highly arched eyebrow Recurrent otitis media Hoarse voice Pulmonic stenosis Platyspondyly Broad forehead Obsessive-compulsive behavior Arthritis Hypertrichosis Toe walking Arthralgia Hyperventilation Tall chin Prominent forehead Diabetes mellitus Motor delay Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Microdontia Lumbar hyperlordosis Short thorax Delayed gross motor development Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Spondyloepiphyseal dysplasia Tricuspid regurgitation Heart murmur Cubitus valgus Sparse eyebrow Elbow dislocation Aortic regurgitation Pulmonary arterial hypertension Spina bifida occulta Bilateral single transverse palmar creases Spina bifida Aortic valve stenosis Sparse and thin eyebrow Otitis media Abnormal form of the vertebral bodies Mitral regurgitation Ventricular hypertrophy Diverticulosis of trachea



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