Brachydactyly, and Facial asymmetry

Diseases related with Brachydactyly and Facial asymmetry

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


Top matches:

Low match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Low match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

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Other less relevant matches:

Low match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Low 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

Low 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

Low match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Low match DUANE RETRACTION SYNDROME


Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome|duane syndrome|durs|drs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Facial asymmetry

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay High palate Short stature Micrognathia Hypertelorism Downslanted palpebral fissures Abnormality of the dentition Cleft palate Microcephaly Sensorineural hearing impairment Telecanthus Short nose Strabismus Cone-shaped epiphysis Alopecia Agenesis of corpus callosum Long philtrum

Rare Symptoms - Less than 30% cases


High forehead Upslanted palpebral fissure Camptodactyly Thin upper lip vermilion Abnormal facial shape Depressed nasal bridge Low-set ears Ptosis Chorioretinal coloboma Radioulnar synostosis Short toe Choanal atresia Microcornea Iris coloboma Flat face Coloboma Macrotia Tapered finger Tongue nodules Feeding difficulties Frontal bossing Deviation of finger Pancreatic cysts Abnormality of the pancreas Preaxial hand polydactyly Median cleft lip Milia Underdeveloped nasal alae Sparse hair Proteinuria Dilatation Renal insufficiency Tremor Abnormality of the skeletal system Hypertension Arachnoid cyst Short palpebral fissure Blepharophimosis Abnormality of cardiovascular system morphology Hypospadias Conductive hearing impairment Lobulated tongue Hypodontia Hyperactivity Clinodactyly Absent radius Anteverted nares Malar flattening Thick eyebrow Brachycephaly Proptosis Growth delay Short neck Syndactyly Muscular hypotonia Dysarthria Small hand Short palm Thin vermilion border Bifid tongue Myelomeningocele Abnormal cortical gyration Ovarian cyst Increased number of teeth Symphalangism affecting the phalanges of the hand Hepatic cysts Dry hair Porencephalic cyst Nephronophthisis Bilateral single transverse palmar creases Abnormality of the nail Narrow naris Broad thumb Hypothalamic hamartoma Gray matter heterotopias Alveolar ridge overgrowth Multiple glomerular cysts Abnormality of toe Trident hand Ataxia Atrioventricular canal defect Molar tooth sign on MRI Agenesis of permanent teeth Abnormality of the kidney Anisometropia Ossifying fibroma Infantile spasms Nasal speech Spastic paraparesis Hydrocephalus Short chin Paraparesis Depressivity Abnormal heart morphology Polydactyly Hypsarrhythmia Cleft lip Short metacarpal Babinski sign Abnormality of the cerebral white matter Carious teeth Oral cleft Stage 5 chronic kidney disease Postaxial polydactyly Abnormal cerebellum morphology Bifid uvula Hypoplasia of dental enamel Hepatic fibrosis Microretrognathia Cutaneous syndactyly Polycystic kidney dysplasia Radial deviation of finger Clinodactyly of the 5th finger Dystonia Finger syndactyly Elevated hepatic transaminase Aniridia Abnormal form of the vertebral bodies Amblyopia Preauricular skin tag Spina bifida occulta Plagiocephaly Hypopigmented skin patches Hypoplasia of the radius Triphalangeal thumb Congenital sensorineural hearing impairment Ectopic kidney Aplasia/Hypoplasia of the thumb Irregular hyperpigmentation External ear malformation Webbed neck Stenosis of the external auditory canal Blepharospasm Abnormal pupil morphology Oculomotor nerve palsy Optic disc hypoplasia Anorectal anomaly Abnormal vertebral segmentation and fusion Hypoplastic iris stroma Narrow internal auditory canal Impaired ocular adduction Impaired ocular abduction Central heterochromia Palpebral fissure narrowing on adduction Low posterior hairline Everted lower lip vermilion Hydronephrosis Open bite Abnormal conjunctiva morphology Dry skin Dandy-Walker malformation Postaxial hand polydactyly Abnormality of the face Multicystic kidney dysplasia Abnormality of dental enamel Reduced bone mineral density Coarse hair Brittle hair Hand polydactyly Chronic otitis media Joint stiffness Tarsal synostosis Abnormality of eye movement Foot polydactyly Exocrine pancreatic insufficiency Abnormality of the skull Hypoplasia of the zygomatic bone Broad alveolar ridges Accessory oral frenulum Hamartoma of tongue Lip pit Odontogenic neoplasm Nystagmus Skeletal muscle atrophy Talipes equinovarus Deeply set eye Gastrointestinal atresia Parietal bossing Exstrophy Broad eyebrow Microtia Nail dystrophy Congenital cataract Smooth philtrum Sparse scalp hair Tented upper lip vermilion Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad philtrum Craniofacial asymmetry Hypermetropia Reduced visual acuity Delayed speech and language development Motor delay Hyperreflexia Dysphagia Delayed skeletal maturation Behavioral abnormality Kyphosis Recurrent infections Pectus excavatum Blindness Gait ataxia Postnatal growth retardation Micromelia Aggressive behavior Abnormal localization of kidney Protruding ear Cryptorchidism Toe syndactyly Nonprogressive visual loss Hyposegmentation of neutrophil nuclei Blue cone monochromacy Prominent glabella Achromatopsia Abnormal palate morphology Dyschromatopsia Cutis laxa Ulnar deviation of finger Dimple chin Mandibular prognathia Coronal hypospadias Sandal gap Cataract Fine hair Narrow forehead Progressive visual loss Single transverse palmar crease Intellectual disability, mild Cerebral atrophy Midface retrusion Posteriorly rotated ears Long face Narrow mouth Pes planus Abnormal cardiac septum morphology Laryngeal hypoplasia Aplasia cutis congenita Coarctation of aorta Enuresis Aganglionic megacolon Hyperpigmentation of the skin Lymphedema Opacification of the corneal stroma Abnormality of the ear Multiple lipomas Aplasia/Hypoplasia of the skin Absent septum pellucidum Hamartoma Generalized hyperpigmentation Abnormality of the ureter Nevus Epileptic spasms Transient ischemic attack Eyelid coloboma Lower limb asymmetry Abnormality of nervous system morphology Epispadias Bladder exstrophy Fibroma Epibulbar dermoid Abnormality of the penis Atrial septal defect Abnormality of the bladder Epidermal nevus Abnormality of the cardiovascular system Astigmatism Attention deficit hyperactivity disorder Optic atrophy Broad forehead Synophrys Poor speech Short distal phalanx of finger Thick vermilion border Syncope Dental crowding Short phalanx of finger Low anterior hairline Abnormality of the hand Obsessive-compulsive behavior 2-3 toe syndactyly Ventricular extrasystoles Stroke Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Aplasia of the 1st metacarpal Neoplasm Failure to thrive Macrocephaly Myopia Generalized hypotonia Polyhydramnios Enuresis nocturna Oval face Patchy hypopigmentation of hair



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