Brachydactyly, and Apnea

Diseases related with Brachydactyly and Apnea

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


Top matches:

Low match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Low 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

Low match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

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Other less relevant matches:

Low match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Low match OROFACIODIGITAL SYNDROME TYPE 2


Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Low match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Apnea

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Sleep apnea Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Scoliosis Cleft palate Macrocephaly Abnormal facial shape Narrow chest Limb undergrowth Anteverted nares Hydrocephalus Hypertelorism Wormian bones Abnormality of the skeletal system Abnormality of pelvic girdle bone morphology Generalized hypotonia Short toe High palate Malar flattening Obstructive sleep apnea Low-set ears Clinodactyly of the 5th finger Abnormality of the ribs Conductive hearing impairment Downslanted palpebral fissures Posteriorly rotated ears Short palm Intellectual disability Mandibular prognathia Muscular hypotonia Skeletal dysplasia Hyperlordosis Micromelia Abnormality of the dentition Seizures Bowing of the long bones Prominent forehead Brachycephaly Frontal bossing Long philtrum Pectus excavatum Respiratory failure

Rare Symptoms - Less than 30% cases


Osteopetrosis Rhizomelia Kyphosis Intrauterine growth retardation Thoracic hypoplasia Spondylolisthesis Short long bone Neurological speech impairment Abnormality of epiphysis morphology Narrow palate Carious teeth Global developmental delay Porencephalic cyst Hydronephrosis Natal tooth Osteoporosis Proptosis Metaphyseal irregularity High forehead Depressed nasal ridge Chronic otitis media Hypoplasia of the maxilla Delayed eruption of teeth Recurrent fractures Abnormality of the genitourinary system Agenesis of corpus callosum Talipes equinovarus Disproportionate short stature Increased bone mineral density Flared metaphysis Microcephaly 11 pairs of ribs Common atrium Arrhythmia Childhood onset short-limb short stature Hepatomegaly Respiratory insufficiency Delayed skeletal maturation Dyspnea Abnormal heart morphology Joint stiffness Abnormality of the elbow Bulbous nose Large fontanelles Short nose Ventricular septal defect Short neck Thick vermilion border Broad forehead Wide nasal bridge Spinal canal stenosis Joint hyperflexibility Genu varum Abnormal form of the vertebral bodies Abnormality of the metaphysis Transposition of the great arteries Spina bifida occulta Dental crowding 11 thoracic vertebrae Long fibula Abnormal sacrum morphology Dystrophic fingernails Cervical C2/C3 vertebral fusion Pulmonary hemorrhage Cupped ribs Rib segmentation abnormalities Horizontal inferior border of scapula Focal lissencephaly Irregular tarsal bones Widened sacrosciatic notch Myocardial necrosis Iliac crest serration Dimple chin Large posterior fontanelle Cone-shaped metacarpal epiphyses Abnormality of the scapula Third degree atrioventricular block Abnormality of the thumb Rhizomelic arm shortening Hypoplastic inferior ilia Lissencephaly Narrow greater sacrosciatic notches Short ribs Platyspondyly Short metacarpal Metaphyseal dysplasia Pachygyria Short phalanx of finger Short finger Cortical gyral simplification Heart block Hypocalcemia Abnormality of neuronal migration Cone-shaped epiphysis Redundant skin Accelerated skeletal maturation Systemic lupus erythematosus Poor suck Turricephaly Cardiorespiratory arrest Coronal cleft vertebrae Cervical segmentation defect Metaphyseal cupping Metaphyseal chondrodysplasia Shoulder muscle hypoplasia Spondylometaphyseal dysplasia Atrioventricular block Short face Neck muscle hypoplasia Cerebellar hypoplasia Myocarditis Hypoplastic iliac wing Flat acetabular roof Hyperphosphatemia Delayed epiphyseal ossification Cone-shaped epiphyses of the phalanges of the hand Atrial septal defect Flared iliac wings Anomalous pulmonary venous return Growth delay Arthrogryposis multiplex congenita Choanal atresia Cerebral calcification Microdontia Macroglossia Highly arched eyebrow Downturned corners of mouth Pulmonary hypoplasia Wide mouth Gingival overgrowth Protruding ear Retrognathia Narrow mouth Depressivity Respiratory distress Dysphagia Visual impairment Hypoplasia of dental enamel Wide anterior fontanel Subependymal cysts Median cleft lip and palate Craniofacial disproportion Alveolar ridge overgrowth Metaphyseal sclerosis Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Long hallux Gingival fibromatosis Plagiocephaly Generalized osteosclerosis Choanal stenosis Protruding tongue Mixed hearing impairment Delayed cranial suture closure Hydroureter Hypophosphatemia Elevated alkaline phosphatase Bilateral trilobed lungs Aplasia/Hypoplasia of the thymus Failure to thrive Abnormality of the pinna Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Wide nose Smooth philtrum Poor speech Attention deficit hyperactivity disorder Anxiety Situs inversus totalis Autism Abnormality of cardiovascular system morphology Behavioral abnormality Intellectual disability, severe Epicanthus Delayed speech and language development Ptosis Stereotypy Narrow face Displacement of the external urethral meatus Heterotaxy Persistent left superior vena cava Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Abnormality of the pharynx Interrupted aortic arch Decreased skull ossification Laryngomalacia Abdominal situs inversus Dyslexia Double outlet right ventricle Abnormality of immune system physiology Hypoplastic left heart Obsessive-compulsive behavior Stridor Nasal speech Dystrophic toenail Abnormality of the nail Hypoplastic scapulae Mesomelia Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Limited elbow extension Elbow dislocation Abnormality of the ilium Disproportionate short-limb short stature Acanthosis nigricans Clonus Lumbar hyperlordosis Dental malocclusion Sudden cardiac death Hyperhidrosis Narrow sacroiliac notch Acromelia Obesity Postaxial hand polydactyly Median cleft lip Abnormality of digit Atrioventricular canal defect Preaxial hand polydactyly Preaxial polydactyly Tachypnea Bifid uvula Cerebellar atrophy Broad nasal tip Abnormal cerebellum morphology Postaxial polydactyly Cleft lip Telecanthus Polydactyly Syndactyly Severe short stature Ventriculomegaly Postaxial foot polydactyly Hoarse voice Thin upper lip vermilion Osteopenia Clinodactyly Subglottic stenosis Pulmonary artery stenosis Epiphyseal dysplasia Thickened skin Synophrys Mitral regurgitation Round face Full cheeks Small hand Pneumonia Abnormality of femur morphology Osteoarthritis Low-set, posteriorly rotated ears Pulmonic stenosis Dysarthria Wolff-Parkinson-White syndrome Hyperreflexia Paroxysmal supraventricular tachycardia Prominent sternum Anterior open bite Perimembranous ventricular septal defect Short 5th metacarpal Supraventricular tachycardia Tachycardia Pierre-Robin sequence Proportionate short stature Infantile muscular hypotonia Sandal gap Palpitations Narrow forehead Everted lower lip vermilion Arachnoid cyst Abnormality of finger Down-sloping shoulders Persistence of primary teeth Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Abnormal pattern of respiration Abnormal pelvis bone ossification Low back pain Small face Ridged nail Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Persistent open anterior fontanelle Recurrent respiratory infections Osteomyelitis Open bite Hypoplasia of the zygomatic bone Hearing abnormality Glossoptosis Sprengel anomaly Short clavicles Increased number of teeth Abnormality of the metacarpal bones Genu valgum Coxa vara Abnormality of dental enamel Hemivertebrae Sinusitis Sloping forehead Tapered finger High, narrow palate Prominent occiput Abnormality of dental morphology Bifid tongue Tongue nodules Cognitive impairment Pain Partial duplication of the phalanges of the hallux Agenesis of central incisor Talon cusp Mesoaxial polydactyly Hypoplasia of the epiglottis Splenomegaly Lobulated tongue Bilateral postaxial polydactyly Accessory oral frenulum Complete atrioventricular canal defect Abnormality of the larynx Bifid nasal tip Preaxial foot polydactyly Anemia Hepatosplenomegaly Abnormality of the thorax Abnormality of the face Back pain Increased susceptibility to fractures Osteolysis Abnormality of the fingernails Bone pain Abnormal vertebral morphology Small nail Craniosynostosis Blue sclerae Abnormality of the skin Growth hormone deficiency Prominent nose Hypodontia Postural instability Short distal phalanx of finger Hypoplastic nasal bridge



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