Low-set ears, and Alopecia

Diseases related with Low-set ears and Alopecia

In the following list you will find some of the most common rare diseases related to Low-set ears and Alopecia that can help you solving undiagnosed cases.

Top matches:

MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Other less relevant matches:

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Medium match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

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

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Alopecia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Alopecia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Intrauterine growth retardation Brachydactyly Short nose Strabismus Abnormal facial shape Cleft palate Wide nasal bridge Abnormality of the dentition Scoliosis Underdeveloped nasal alae Frontal bossing Cryptorchidism Sparse hair Nystagmus Growth delay Delayed speech and language development Seizures Macrocephaly Midface retrusion Abnormal heart morphology Anteverted nares Facial asymmetry Intellectual disability, mild Microphthalmia Depressivity Upslanted palpebral fissure Telecanthus

Rare Symptoms - Less than 30% cases

Myopia Ptosis Median cleft lip Hemivertebrae Long philtrum Posteriorly rotated ears Glaucoma Diabetes mellitus Renal hypoplasia Thin upper lip vermilion Deeply set eye Short palpebral fissure Hydrocephalus Malar flattening Hypotrichosis Abnormality of dental enamel Abnormality of cardiovascular system morphology Short palm Downslanted palpebral fissures Short neck Narrow naris Finger syndactyly Radial deviation of finger Opacification of the corneal stroma Sacral dimple Increased number of teeth Hypoplastic labia majora Bifid tongue Hypodontia Downturned corners of mouth Hip dislocation Pectus excavatum Corneal opacity Prominent forehead Severe short stature Inguinal hernia Clinodactyly Syndactyly Cleft lip Oral cleft Cafe-au-lait spot Hypoplasia of dental enamel Specific learning disability Joint hypermobility Joint hyperflexibility Hypertension Epicanthus Sensorineural hearing impairment Hypoplasia of the maxilla Bifid nose Failure to thrive Eyelid coloboma Carious teeth Fine hair Cupped ear Sparse eyelashes Sparse and thin eyebrow Agenesis of corpus callosum Depressed nasal bridge Protruding ear Short philtrum Hypospadias Popliteal pterygium Ankyloblepharon Median cleft lip and palate Sparse or absent eyelashes Clitoral hypoplasia Clinodactyly of the 5th finger Abnormality of the gingiva Hypoplastic labia minora Curly eyelashes Short sternum Alopecia totalis Ridged fingernail Labial hypoplasia Epispadias Abnormality of the penis Euryblepharon Naevus flammeus of the eyelid Onychogryposis of fingernail High palate Dysarthria Tremor Sparse lower eyelashes Renal insufficiency Prominent superficial veins Dilatation Polydactyly Bilateral cleft palate Proptosis Aplasia/Hypoplasia of the distal phalanges of the toes Oral synechia Unilateral renal hypoplasia Micromelia Wide nose High, narrow palate Hip dysplasia Hypoplasia of penis Blue sclerae Abnormal form of the vertebral bodies Long eyelashes Gingival overgrowth Adactyly Coxa valga Coxa vara Pectus carinatum Oligodontia Synostosis of joints Elbow dislocation Camptodactyly of finger Open bite Long palpebral fissure Hypoplastic male external genitalia Capillary hemangioma Anodontia Umbilical hernia Hypoplastic scapulae Retrognathia Avascular necrosis of the capital femoral epiphysis Femoral hernia Fingernail dysplasia Proteinuria Stage 5 chronic kidney disease Abnormality of the kidney Arthrogryposis multiplex congenita Hypothalamic hamartoma Gray matter heterotopias Abnormality of the zygomatic bone Multiple glomerular cysts Bilateral cryptorchidism Abnormality of toe Trident hand Flexion contracture Talipes equinovarus Obesity Narrow mouth Pes planus Absent eyebrow Blepharophimosis Toe syndactyly Lobulated tongue Short phalanx of finger Small nail Ambiguous genitalia Sparse scalp hair Omphalocele Abnormality of the genital system Wide intermamillary distance Cleft upper lip Ectropion Short thumb Narrow palpebral fissure Renal hypoplasia/aplasia Confusion Talipes Pterygium Tongue nodules Deviation of finger Abnormality of the cerebral white matter Anal stenosis Molar tooth sign on MRI Multiple cafe-au-lait spots Facial cleft Polycystic kidney dysplasia Aplasia cutis congenita Cutaneous syndactyly Microretrognathia Agenesis of permanent teeth Absent eyelashes Hepatic fibrosis Bifid uvula Abnormal cerebellum morphology Postaxial polydactyly Skin tags Milia Absent thumb Pancreatic cysts Abnormal cortical gyration Hepatic cysts Mask-like facies Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Myelomeningocele Truncal obesity Arachnoid cyst Hypoplastic toenails Anonychia Atrioventricular canal defect Nephronophthisis Aplasia/Hypoplasia of the eyebrow Alveolar ridge overgrowth Microcornea Hypoplastic facial bones High forehead Corneal dystrophy Progressive hearing impairment Broad thumb Delayed myelination Broad nasal tip Low-set, posteriorly rotated ears Hypothyroidism Broad columella Rod-cone dystrophy Cerebellar atrophy Motor delay Visual impairment Agenesis of cerebellar vermis Broad philtrum Congenital hypothyroidism Wide nasal base Calvarial skull defect Aganglionic megacolon Generalized hypotonia Hypoplasia of the bladder Abnormality of brain morphology Optic nerve hypoplasia Plagiocephaly Renal dysplasia Postaxial hand polydactyly Broad distal phalanx of finger Decreased testicular size Convex nasal ridge Vesicoureteral reflux Iris coloboma Ichthyosis Intellectual disability, severe Conical tooth Coronal craniosynostosis Muscular hypotonia Sparse eyebrow Mandibulofacial dysostosis Trismus Stenosis of the external auditory canal Glossoptosis Hydroureter Preauricular pit Bicuspid aortic valve Lower eyelid coloboma Preauricular skin tag Dental crowding Everted lower lip vermilion Coloboma Abnormality of the pinna Conductive hearing impairment Delayed eruption of primary teeth Ataxia Scrotal hypoplasia CNS hypomyelination Encephalocele Oligohydramnios Intellectual disability, moderate Brachycephaly Hypogonadism Oral leukoplakia Bone marrow hypocellularity Hypertonia Intellectual disability, profound Pancytopenia Abnormality of skin pigmentation Nail dystrophy Cerebellar hypoplasia Constipation Absent speech Neoplasm Spasticity Birth length less than 3rd percentile Increased body weight Hyperglycemia Lipodystrophy Prominent supraorbital ridges Short chin Nephrocalcinosis Congenital hip dislocation Insulin resistance Congenital glaucoma Decreased body weight Abnormality of the face Thin skin Bilateral sensorineural hearing impairment Microdontia Abnormality of the skin Glucose intolerance Reduced subcutaneous adipose tissue Triangular face Abnormal pupil morphology Enlarged epiphyses Rieger anomaly Abnormality of the mandible Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Premature skin wrinkling Lipoatrophy Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Megalocornea Poor appetite Abnormality of the immune system Dental malocclusion Delayed eruption of teeth Cognitive impairment Large hands Bone cyst Long foot Macroorchidism Broad neck Alopecia of scalp Neurofibromas Tall stature Overbite Overgrowth Thin vermilion border Attention deficit hyperactivity disorder Coarse facial features Pes cavus Abnormality of the skeletal system Thick nasal alae Lisch nodules Neurological speech impairment Cataract Small for gestational age Joint laxity Macrotia Weight loss Delayed skeletal maturation Hernia Inguinal freckling Axillary freckling Spinal neurofibromas Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Deviated nasal septum Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Symblepharon


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