Frontal bossing, and Alopecia

Diseases related with Frontal bossing and Alopecia

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

Top matches:

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as vdrr ii|vddr ii|vitamin d-dependent rickets type ii|hvdrr|hereditary vitamin d-resistant rickets|vitamin d-resistant rickets type ii

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

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

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Other less relevant matches:

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

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

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

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 Frontal bossing and Alopecia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Sparse hair Hypogonadism Low-set ears Nystagmus Abnormal facial shape Cryptorchidism Scoliosis Downslanted palpebral fissures Midface retrusion Cataract Carious teeth Telecanthus Sensorineural hearing impairment Growth delay Underdeveloped nasal alae Epicanthus Severe short stature Sparse scalp hair Micrognathia Brachydactyly Wide nasal bridge Abnormality of the skin Failure to thrive Prominent forehead

Rare Symptoms - Less than 30% cases

Osteosarcoma Poikiloderma Cognitive impairment Peripheral neuropathy Short nose Malar flattening Long eyelashes Micropenis Hypothyroidism Small for gestational age Delayed puberty Hypogonadotrophic hypogonadism Hypoplasia of penis Dysarthria Delayed eruption of teeth Macrocephaly Bifid tongue Increased number of teeth Narrow naris Radial deviation of finger Hypodontia Downturned corners of mouth Short palm Hip dislocation Inguinal hernia Abnormal heart morphology Clinodactyly Depressivity Microcephaly Hypoplasia of dental enamel Global developmental delay Anodontia Insulin-resistant diabetes mellitus Bilateral sensorineural hearing impairment Dental malocclusion Triangular face Hypotrichosis Diabetes mellitus Eczema High palate Seizures Flat occiput Cutaneous photosensitivity Delayed speech and language development Abnormal form of the vertebral bodies Hypocalcemia Gait disturbance Anteverted nares Hyperkeratosis Diarrhea Hypophosphatemia Intellectual disability, mild Hyperparathyroidism Osteomalacia Fine hair Bone pain Recurrent fractures Agenesis of corpus callosum Skin rash Upslanted palpebral fissure Intrauterine growth retardation Strabismus Poor appetite Abnormality of skin pigmentation Glucose intolerance Abnormality of the immune system Lipoatrophy Reduced subcutaneous adipose tissue Congenital glaucoma Hyperglycemia Lipodystrophy Prominent supraorbital ridges Megalocornea Premature skin wrinkling Posterior embryotoxon Enlarged epiphyses Pectus excavatum Hypospadias Long philtrum Short neck Ptosis Abnormality of the zygomatic bone Hypoplastic facial bones Birth length less than 3rd percentile Rieger anomaly Hypoplasia of the iris Abnormality of the mandible Genu valgum Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Abnormality of dental enamel Increased intraocular pressure Opacification of the corneal stroma Abnormality of the face Short chin Myopia Delayed skeletal maturation Joint dislocation Osteolysis Genu varum Hernia Abnormality of the thorax Abnormality of the hip bone Weight loss Bone cyst Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Glaucoma Macrotia Nephrocalcinosis Microdontia Congenital hip dislocation Increased body weight Insulin resistance Decreased body weight Posteriorly rotated ears Thin skin Abnormality of the metaphysis Deeply set eye Microcornea Nephrolithiasis Joint hypermobility Joint hyperflexibility Neurological speech impairment Corneal opacity Joint laxity Clinodactyly of the 5th finger Umbilical hernia Proptosis Postaxial polydactyly Molar tooth sign on MRI Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Hepatic fibrosis Bifid uvula Abnormal cerebellum morphology Stage 5 chronic kidney disease Agenesis of permanent teeth Oral cleft Facial asymmetry Abnormality of the cerebral white matter Abnormality of the kidney Cleft lip Proteinuria Polydactyly Dilatation Milia Nephronophthisis Renal insufficiency Pancreatic cysts Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Lobulated tongue Deviation of finger Hepatic cysts Atrioventricular canal defect Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Abnormal cortical gyration Myelomeningocele Arachnoid cyst Median cleft lip Syndactyly Hydrocephalus Retrognathia Specific learning disability Oligodontia Sacral dimple Coxa vara Coxa valga Hemivertebrae Gingival overgrowth Blue sclerae Hip dysplasia Open bite High, narrow palate Wide nose Micromelia Finger syndactyly Short philtrum Pectus carinatum Camptodactyly of finger Abnormal T-wave Elbow dislocation Long palpebral fissure Tremor Hypoplastic labia minora Hypertension Cleft palate Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Abnormality of the gingiva Dolichocephaly Clitoral hypoplasia Median cleft lip and palate Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Capillary hemangioma Abnormal spermatogenesis Autoimmune thrombocytopenia Decreased serum estradiol Retinal atrophy Central heterochromia Long eyebrows Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Progressive gait ataxia Chorioretinal atrophy Splenomegaly Sensory axonal neuropathy Neoplasm Horizontal nystagmus Gynecomastia Pain Clumsiness Feeding difficulties Bifid nose Agenesis of cerebellar vermis Growth hormone deficiency Neutropenia Myelodysplasia Conjunctivitis Recurrent pneumonia Recurrent otitis media Otitis media Asthma Palmoplantar keratoderma Calvarial skull defect Broad philtrum Nail dystrophy Cough Respiratory tract infection Mandibular prognathia Respiratory failure Recurrent respiratory infections Pneumonia Conical tooth Pigmentary retinopathy Progressive cerebellar ataxia Atrophic scars Striae distensae Lamellar cataract Acantholysis Concave nasal ridge Carcinoma Postnatal growth retardation Alopecia of scalp Severe vision loss Basal cell carcinoma Ataxia Squamous cell carcinoma Erythroderma Melanoma Telangiectasia Erythema Leukemia Overgrowth Abnormal blistering of the skin Acrokeratosis Osteopenia Thick eyebrow Distal muscle weakness Distal amyotrophy Retinal degeneration Peripheral axonal neuropathy Paraplegia Visual impairment Spastic paraplegia Edema Pallor Muscle weakness Hypoglycemia Vomiting Gait ataxia Rod-cone dystrophy Osteoporosis Obesity Cerebellar atrophy Hyperhidrosis Increased antibody level in blood Wheezing Decreased serum testosterone level Protruding ear Abnormal adipose tissue morphology Prominent nose Polyneuropathy Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Camptodactyly Amenorrhea Mental deterioration High forehead Babinski sign Abnormality of metabolism/homeostasis Dystonia Microphthalmia Hyperreflexia Decreased testicular size Dehydration Subperiosteal bone resorption Premature ovarian insufficiency Premature loss of primary teeth Heart block Rough bone trabeculation Hypopigmentation of the skin Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Hyperlipidemia Abnormal bone structure Purpura Hypergonadotropic hypogonadism Hallucinations Choreoathetosis Primary amenorrhea Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Brachycephaly Bulging of the costochondral junction Blepharitis Papule Bowing of the legs Intellectual disability, moderate Metaphyseal irregularity Rickets Elevated alkaline phosphatase Aminoaciduria Oligohydramnios Irritability Tibial bowing Difficulty walking Encephalocele Motor delay Muscular hypotonia Scrotal hypoplasia Coronal craniosynostosis Generalized hypotonia Subungual hyperkeratosis Femoral bowing Protuberant abdomen Deformed rib cage Widely patent fontanelles and sutures Increased serum 1,25-dihydroxyvitamin D3 Secondary hyperparathyroidism Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Abdominal wall muscle weakness Enlargement of the wrists Fibular bowing Premature loss of teeth Hypocalcemic seizures Difficulty standing Generalized aminoaciduria Alopecia universalis Alopecia totalis Thin bony cortex Elevated circulating parathyroid hormone level Delayed epiphyseal ossification Trident hand


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