Brachydactyly, and Broad forehead

Diseases related with Brachydactyly and Broad forehead

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


Top matches:

Medium match ISOLATED BRACHYCEPHALY


Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

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Other less relevant matches:

Medium match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Medium match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

Medium 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

Medium match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Medium match PFEIFFER SYNDROME


Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Broad forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High forehead Anteverted nares Abnormal facial shape Strabismus Low-set ears Hypertelorism High palate Microcephaly Thin upper lip vermilion Clinodactyly Midface retrusion Micrognathia Seizures Toe syndactyly Short philtrum Syndactyly Upslanted palpebral fissure Macrotia Ventricular septal defect Epicanthus Wide nasal bridge Long philtrum Thick eyebrow Depressed nasal bridge Clinodactyly of the 5th finger Protruding ear Attention deficit hyperactivity disorder Autistic behavior Growth delay Behavioral abnormality Short stature Generalized hypotonia Feeding difficulties Delayed speech and language development Myopia Proptosis Dental crowding Hyperactivity Autism Everted lower lip vermilion

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Abnormal cardiac septum morphology Arrhythmia Congestive heart failure Dilatation Abnormal heart morphology Anemia Downturned corners of mouth Muscular hypotonia Patent ductus arteriosus Depressed nasal tip Convex nasal ridge Pulmonic stenosis Craniofacial dysostosis Thick vermilion border Synophrys Conductive hearing impairment Pectus excavatum Abnormality of the skeletal system Polydactyly Craniosynostosis Broad nasal tip Hypodontia Ptosis Motor delay Obsessive-compulsive behavior Low-set, posteriorly rotated ears Posteriorly rotated ears Iris coloboma Highly arched eyebrow Prominent nose Underdeveloped supraorbital ridges Short foot Broad-based gait Hydrocephalus Brachycephaly Wormian bones Hemiclonic seizures Abnormality of the periventricular white matter Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormality of the genital system Abnormal corpus callosum morphology Abnormality of nervous system morphology Happy demeanor Frontal cortical atrophy Cutaneous syndactyly Periventricular white matter hyperdensities Scoliosis Abnormality of the dentition Infantile spasms Mandibular prognathia Finger syndactyly Aniridia Self-injurious behavior Wide nose Nephroblastoma Sparse eyebrow Poor eye contact Hyperacusis Cupped ear Febrile seizures Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Absent speech Encephalopathy Myoclonus EEG abnormality Deeply set eye Coloboma Generalized tonic-clonic seizures Inability to walk Multiple exostoses Generalized myoclonic seizures Epileptic encephalopathy Tented upper lip vermilion Parietal foramina Open mouth Heterotopia Stereotypy Congenital ptosis Short chin Sparse lateral eyebrow Absence seizures Plagiocephaly Decreased skull ossification Exostoses Hypoplasia of the maxilla Turricephaly Optic nerve hypoplasia Single transverse palmar crease Underdeveloped nasal alae Aggressive behavior Cartilaginous trachea Hyperreflexia Dysphagia Micropenis Obesity Hypertension Cataract Sensorineural hearing impairment Recurrent infections Failure to thrive Gait ataxia Nystagmus Pes planus Aplasia of the 1st metacarpal Short middle phalanx of toe Poor speech Facial asymmetry Short distal phalanx of finger Tapered finger Syncope Short phalanx of finger Low anterior hairline Abnormality of the hand 2-3 toe syndactyly Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Hypothyroidism Telecanthus Otitis media Shallow orbits Obsessive-compulsive trait Delayed puberty Epidermal acanthosis Choanal atresia Broad thumb Short thumb Acanthosis nigricans Arnold-Chiari malformation Atresia of the external auditory canal Preaxial polydactyly Broad hallux Natal tooth Ankylosis Coronal craniosynostosis Bicoronal synostosis Choanal stenosis Tracheal stenosis Cloverleaf skull Oxycephaly Anterior plagiocephaly Humeroradial synostosis Bronchomalacia Long hallux Prominent nasal bridge Brachyturricephaly Elbow ankylosis Broad phalanx Shortening of all middle phalanges of the fingers Kyphosis Mesoaxial hand polydactyly Paroxysmal supraventricular tachycardia Cryptorchidism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Muscle weakness Intrauterine growth retardation Broad face Respiratory distress Recurrent respiratory infections Dyspnea Respiratory tract infection Paralysis Dolichocephaly Thin vermilion border Cyanosis Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Sinusitis Increased body weight Panhypopituitarism Bilateral cleft lip and palate Clubbing Small nail Increased intracranial pressure Metacarpal synostosis Pain Fever Atrial septal defect Vomiting Constipation Gastroesophageal reflux Anxiety Hyperlordosis Wide mouth Hypermetropia Small hand Macrocephaly Bilateral cleft lip Frontal bossing Microphthalmia Agenesis of corpus callosum Cleft lip Smooth philtrum Oral cleft Dental malocclusion Hypotelorism Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Easy fatigability Heart murmur Prominent sternum Spina bifida occulta Parasomnia Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Cleft palate Delayed skeletal maturation Osteopenia Apnea Tachycardia Narrow forehead Palpitations Short toe Sandal gap Triangular mouth Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Pierre-Robin sequence Supraventricular tachycardia 11 pairs of ribs Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite No permanent dentition Persistence of primary teeth Preauricular pit Pulmonary valve atresia Polycythemia Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Tetralogy of Fallot with absent pulmonary valve Short middle phalanx of the 5th finger Absence of the pulmonary valve Intellectual disability, mild Malar flattening Sleep disturbance Premature birth Coarctation of aorta Depressed nasal ridge Finger clinodactyly Bicuspid aortic valve Coarse hair Hand polydactyly Supernumerary nipple Prominent occiput Cutaneous syndactyly between fingers 2 and 5



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