Brachydactyly, and Retrognathia

Diseases related with Brachydactyly and Retrognathia

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


Top matches:

Medium match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Medium match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Medium match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

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Other less relevant matches:

Medium match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Medium match METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE


Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Retrognathia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Hypertelorism Cryptorchidism Anteverted nares Growth delay Broad nasal tip Thin vermilion border Clinodactyly Generalized hypotonia Syndactyly Severe global developmental delay Cleft palate Proptosis Hearing impairment Midface retrusion Scoliosis Sparse hair Osteopenia Depressed nasal bridge Seizures Low-set ears Short metatarsal Micrognathia Short metacarpal

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Intrauterine growth retardation Short neck Wide nasal bridge Growth abnormality Epicanthus High palate Obesity Ptosis Deeply set eye Strabismus Delayed myelination Malar flattening Hernia Laryngomalacia Narrow forehead Thin upper lip vermilion Short finger Triangular face Small hand Downturned corners of mouth Dolichocephaly Posteriorly rotated ears Abnormality of the dentition High pitched voice Gingival overgrowth Joint laxity Clinodactyly of the 5th finger Macrocephaly Cognitive impairment Small nail Wide mouth Umbilical hernia Coarse facial features Patent ductus arteriosus Ventricular septal defect Overgrowth Waddling gait Severe short stature Hypoplasia of the maxilla Absent speech Single transverse palmar crease Osteoporosis Respiratory distress Prominent nose Sensorineural hearing impairment Intellectual disability, severe Flexion contracture Toe syndactyly Prominent nasal bridge Abnormality of digit Hallux valgus Thick vermilion border Kyphoscoliosis Alopecia Widely spaced teeth Azoospermia Nail dysplasia Pointed chin Dental crowding Type II diabetes mellitus Aggressive behavior Relative macrocephaly Delayed eruption of teeth Cone-shaped epiphysis Frontal balding Dystonia Atrial septal defect Optic atrophy Visual impairment Feeding difficulties Hypoplastic sacrum Clitoral hypoplasia Short distal phalanx of finger Breast hypoplasia Hypoplastic pelvis Oligospermia Low hanging columella Disproportionate short stature Polydactyly Agenesis of permanent teeth Short femoral neck Small for gestational age Long face Urethral stenosis Cutis laxa Hyperextensible skin Redundant skin Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Irregular dentition Carious teeth Abnormal lip morphology Upper eyelid edema Infra-orbital fold Anonychia Short nose Sloping forehead Prominent forehead Diabetes mellitus Mandibular prognathia High forehead Developmental regression Postnatal growth retardation Microtia Abnormal heart morphology Low-set, posteriorly rotated ears Gastroesophageal reflux T-wave inversion Bilateral single transverse palmar creases Scapular winging Ventricular tachycardia Abnormal palate morphology Reduced tendon reflexes Oligodontia Ventricular arrhythmia Myotonia 2-3 toe syndactyly Right bundle branch block Prolonged QT interval Ventricular extrasystoles Left bundle branch block Torsade de pointes Short phalanx of finger Abnormal atrioventricular conduction Abnormal T-wave Periodic paralysis Delayed eruption of permanent teeth First degree atrioventricular block Clinodactyly of the 5th toe Short digit Short mandibular rami Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Muscle fiber tubular inclusions Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Cardiac arrest Hypoplasia of dental enamel Neonatal hypotonia Chronic lung disease Hydronephrosis Sparse and thin eyebrow Craniosynostosis Abnormal cardiac septum morphology Poor speech Intestinal malrotation Abnormal lung morphology Cerebral visual impairment Muscle stiffness Microretrognathia Plagiocephaly Neonatal respiratory distress Preauricular pit Lacrimal duct stenosis Palpitations Depressivity Arrhythmia Elevated serum creatine phosphokinase Broad forehead Dilated cardiomyopathy Limb muscle weakness Bulbous nose Short palm Wide nose High, narrow palate Sudden cardiac death Syncope Febrile seizures Specific learning disability Hypergonadotropic hypogonadism Thick lower lip vermilion Thoracic scoliosis Infra-orbital crease Bronchomalacia Short columella Astigmatism Short foot Tracheomalacia Exertional dyspnea Interstitial pulmonary abnormality Short palpebral fissure Short middle phalanx of finger Abnormality of the hand Delayed ability to walk Underdeveloped supraorbital ridges Pseudohypoparathyroidism Frontal hirsutism Bronchospasm Blindness Tachypnea Broad thumb Brachycephaly Highly arched eyebrow Choanal atresia Bowing of the long bones Short ribs Knee flexion contracture Nephrocalcinosis Osteolysis Short long bone Disproportionate short-limb short stature Elevated alkaline phosphatase Parietal bossing Intercostal retractions Prominent supraorbital ridges Slender long bone Hypermetropia Abnormality of the skin Hypotelorism Fine hair Thin skin Wormian bones Cachexia Dermal atrophy Pterygium Flat occiput Delayed cranial suture closure Long nose Lipoatrophy Prematurely aged appearance Frontal bossing Striae distensae Narrow nose Shallow orbits Osteolytic defects of the phalanges of the hand Increased thyroid-stimulating hormone level Narrow philtrum Thin calvarium Scarring Hyperkeratosis Delayed skeletal maturation Microphthalmia Delayed speech and language development Edema Respiratory insufficiency Hypercalciuria Hypercalcemia Bronchiectasis 4-5 toe syndactyly Ventricular hypertrophy Absent fourth finger distal interphalangeal crease Left ventricular hypertrophy Short chin Lissencephaly Failure to thrive in infancy Cutis marmorata Protruding tongue Severe failure to thrive Periorbital fullness Skull asymmetry Muscular hypotonia Single interphalangeal crease of fifth finger Downslanted palpebral fissures Bifid uvula Dilatation Hypogonadism Pes planus Congenital microcephaly Ichthyosis Joint hypermobility Bruising susceptibility Hirsutism Everted lower lip vermilion Short middle phalanx of the 5th finger High myopia Recurrent fractures Sparse scalp hair Decreased body weight Dandy-Walker malformation Macroglossia Rickets Wide cranial sutures Bowing of the legs Hypophosphatemia Pathologic fracture Hip contracture Hypoparathyroidism Upper limb undergrowth Choanal stenosis Misalignment of teeth Clubbing of fingers Hyperphosphaturia Enlarged joints Metaphyseal chondrodysplasia Metaphyseal cupping Metaphyseal dysostosis Hypertrophic cardiomyopathy Thick skull base Prominent supraorbital arches in adult Failure to thrive Abnormality of the foot Finger syndactyly Hypoplasia of the corpus callosum Hydrocephalus Cardiomyopathy Hypertonia Respiratory tract infection Polyhydramnios Dyspnea Recurrent respiratory infections Pectus excavatum Aplasia/Hypoplasia of the maxilla



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