Hypertelorism, and Alopecia

Diseases related with Hypertelorism and Alopecia

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

Top matches:

Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

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

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

Other less relevant matches:

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI 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

Top 5 symptoms//phenotypes associated to Hypertelorism and Alopecia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Intellectual disability Macrocephaly Wide nasal bridge Microcephaly Seizures Sparse hair Midface retrusion Brachydactyly Scoliosis Abnormal facial shape Telecanthus Global developmental delay Cryptorchidism Upslanted palpebral fissure Ptosis Sensorineural hearing impairment Downslanted palpebral fissures Strabismus Hyperkeratosis Fine hair Brachycephaly Underdeveloped nasal alae Bifid nose Encephalocele Agenesis of corpus callosum Intellectual disability, mild Abnormality of the dentition Delayed speech and language development Malar flattening Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Thick nasal alae Cognitive impairment Pectus excavatum Epicanthus Narrow naris Nystagmus Median cleft lip Sparse eyelashes Sparse and thin eyebrow Myopia Broad nasal tip Increased number of teeth Bifid tongue Carious teeth Short nose Facial asymmetry Abnormality of dental enamel Joint hyperflexibility Prominent forehead Insulin-resistant diabetes mellitus Anodontia Bilateral sensorineural hearing impairment Dental malocclusion Triangular face Hypotrichosis Depressivity Clinodactyly Inguinal hernia Severe short stature Diabetes mellitus Joint hypermobility Dysarthria Hip dislocation Short palm High palate Downturned corners of mouth Hypodontia Radial deviation of finger Increased thyroid-stimulating hormone level Hypoplasia of dental enamel Specific learning disability Cataract Glaucoma Prominent nasal bridge Anteverted nares Thin skin Abnormality of the skin Broad columella Calvarial skull defect Delayed eruption of teeth Flat occiput Coronal craniosynostosis Hypogonadism Delayed skeletal maturation Thin vermilion border Microphthalmia Parietal foramina Proptosis Lipoatrophy Sparse eyebrow Retrognathia Intrauterine growth retardation Megalocornea Myelomeningocele Atrioventricular canal defect Premature skin wrinkling Increased intraocular pressure Insulin resistance Increased body weight Congenital hip dislocation Nephrocalcinosis Short chin Opacification of the corneal stroma Prominent supraorbital ridges Lipodystrophy Hyperglycemia Abnormality of the immune system Poor appetite Nephronophthisis Agenesis of permanent teeth Glucose intolerance Hypoplasia of the iris Arachnoid cyst Congenital glaucoma Reduced subcutaneous adipose tissue Abnormality of the face Posterior embryotoxon Alveolar ridge overgrowth Decreased body weight Hypothalamic hamartoma Microdontia Lobulated tongue Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Abnormal spermatogenesis Abnormal T-wave Hernia Decreased serum estradiol Decreased serum testosterone level Heart block Deviation of finger Autoimmune thrombocytopenia Hypoplasia of the uterus Failure to thrive Pancreatic cysts Gray matter heterotopias Dry hair Microcornea Abnormal cortical gyration Abnormal pupil morphology Tongue nodules Abnormality of the pancreas Ovarian cyst Neurological speech impairment Hepatic cysts Corneal opacity Small for gestational age Joint laxity Deeply set eye Macrotia Weight loss Porencephalic cyst Milia Proteinuria Dimple chin Hypoplastic labia majora Clitoral hypoplasia Median cleft lip and palate Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Capillary hemangioma Hypoplastic labia minora Stage 5 chronic kidney disease Long palpebral fissure Open bite Elbow dislocation Oligodontia Sacral dimple Abnormality of toe Abnormality of the gingiva Oral cleft Premature ovarian insufficiency Tremor Dilatation Syndactyly Cleft lip Renal insufficiency Hydrocephalus Multiple glomerular cysts Abnormality of the kidney Abnormality of the cerebral white matter Curly eyelashes Hypertension Cleft palate Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Postaxial polydactyly Abnormal cerebellum morphology Excessive wrinkled skin Molar tooth sign on MRI Umbilical hernia Posteriorly rotated ears Clinodactyly of the 5th finger Hypospadias Long philtrum Short neck Abnormality of the zygomatic bone Pectus carinatum Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Polydactyly Abnormal anterior chamber morphology Camptodactyly of finger Short philtrum Bifid uvula Abnormal form of the vertebral bodies Hepatic fibrosis Microretrognathia Coxa vara Coxa valga Hemivertebrae Gingival overgrowth Long eyelashes Blue sclerae Finger syndactyly Hypoplasia of penis Hip dysplasia High, narrow palate Wide nose Cutaneous syndactyly Polycystic kidney dysplasia Micromelia Aplasia/Hypoplasia of the eyebrow Spinal neurofibromas Hyperlipidemia Nail dystrophy Recurrent otitis media Cutaneous photosensitivity Eczema Otitis media Asthma Palmoplantar keratoderma Neutropenia Cough Conjunctivitis Skin rash Respiratory tract infection Mandibular prognathia Respiratory failure Recurrent respiratory infections Pneumonia Splenomegaly Recurrent pneumonia Myelodysplasia Narrow philtrum Hypoplasia of the corpus callosum Large fontanelles Depressed nasal ridge Short palpebral fissure Cerebellar vermis hypoplasia Craniosynostosis Wide mouth Hyperhidrosis Ventriculomegaly Increased antibody level in blood Talipes equinovarus Subungual hyperkeratosis Poikiloderma Osteosarcoma Blepharitis Wheezing Atrophic scars Thin calvarium Osteolytic defects of the phalanges of the hand Hypopituitarism Intellectual disability, moderate Respiratory insufficiency Flexion contracture Agenesis of cerebellar vermis Broad philtrum Conical tooth Scrotal hypoplasia Oligohydramnios Symmetrical, oval parietal bone defects Osteoporosis Wide nasal ridge Aplasia cutis congenita of scalp Diastema Depressed nasal tip Bilateral cryptorchidism Narrow palate Broad thumb Edema Kyphoscoliosis Shallow orbits Dermal atrophy Narrow nose Striae distensae Prematurely aged appearance Slender long bone Long nose Delayed cranial suture closure Pterygium Cachexia Osteopenia Growth abnormality Wormian bones Hypotelorism Hypoplasia of the maxilla Recurrent fractures Hypermetropia Scarring Hypohidrosis Meningocele Purpura Diarrhea Mental deterioration High forehead Hypothyroidism Micropenis Babinski sign Abnormality of metabolism/homeostasis Dystonia Gait disturbance Protruding ear Hyperreflexia Peripheral neuropathy Inguinal freckling Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Deviated nasal septum Neurofibrosarcoma Camptodactyly Arthrogryposis multiplex congenita Subcutaneous neurofibromas Psychosis Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Abnormality of extrapyramidal motor function Delayed puberty Dehydration Amenorrhea Decreased testicular size Prominent nose Polyneuropathy Sensory neuropathy Abnormality of movement Optic nerve glioma Axillary freckling Abnormal toenail morphology Retrocerebellar cyst Abnormality of the glabella Midline central nervous system lipomas Hypoplasia of the olfactory bulb Aplasia/Hypoplasia of the tibia Dermoid cyst Choroid plexus cyst Decreased lacrimation Median cleft palate Neoplasm Large sella turcica Anterior pituitary hypoplasia Patellar hypoplasia Alopecia totalis Bifid nasal tip Preaxial foot polydactyly Upper airway obstruction Generalized hypotonia Muscular hypotonia Lisch nodules Large hands Overbite Bone cyst Long foot Macroorchidism Broad neck Alopecia of scalp Neurofibromas Cafe-au-lait spot Spasticity Tall stature Overgrowth Attention deficit hyperactivity disorder Thin upper lip vermilion Coarse facial features Pes cavus Abnormality of cardiovascular system morphology Abnormality of the skeletal system Trident hand


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Vomiting, related diseases and genetic alterations Macrocephaly and Hypospadias, related diseases and genetic alterations Peripheral neuropathy and Chorea, related diseases and genetic alterations Cataract and Pulmonic stenosis, related diseases and genetic alterations Hypertelorism and Congenital cataract, related diseases and genetic alterations