Frontal bossing, and Abnormality of skin pigmentation

Diseases related with Frontal bossing and Abnormality of skin pigmentation

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Other less relevant matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

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

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Frontal bossing and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Sparse hair Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cataract Macrocephaly Osteopenia Short distal phalanx of finger Sparse and thin eyebrow Short stature Cryptorchidism Generalized hypotonia Feeding difficulties Hypertension Thick vermilion border Delayed eruption of teeth Microdontia Depressed nasal ridge Neoplasm Hyperhidrosis Wide nasal bridge Telecanthus

Rare Symptoms - Less than 30% cases

Growth delay Aplasia/Hypoplasia of the eyebrow Absent nipple Anterior hypopituitarism Heat intolerance Anodontia Soft skin Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Anhidrosis Everted upper lip vermilion Absent eyebrow Sparse eyelashes Type I diabetes mellitus Hoarse voice Hypohidrosis Thin skin Ectodermal dysplasia Hypodontia Hypohidrotic ectodermal dysplasia Periorbital wrinkles Hypotrichosis Hypertelorism Absent eyelashes Abnormality of the dentition Abnormal facial shape Eczema Sparse scalp hair Carious teeth Epicanthus Strabismus Scoliosis Periorbital hyperpigmentation Joint hyperflexibility Hypoplasia of the maxilla Wide mouth Hydrocephalus Prominent supraorbital ridges Optic atrophy Brittle hair Failure to thrive Micrognathia Everted lower lip vermilion Anhidrotic ectodermal dysplasia Hyperkeratosis Melanocytic nevus Brachydactyly Anteverted nares Hypopigmented skin patches Hypopigmentation of the skin High forehead Low-set ears Striae distensae Melanoma Concave nasal ridge Poikiloderma Cutaneous photosensitivity Sutural cataract Telangiectasia High iliac wings Osteosarcoma Delayed closure of the anterior fontanelle Erythroderma Alopecia of scalp Squamous cell carcinoma Overgrowth Narrow iliac wings Severe vision loss Hypoplasia of teeth Basal cell carcinoma Posterior Y-sutural cataract Abnormal blistering of the skin Edema Punctate cataract Abnormality of the upper urinary tract Dimple chin Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Pain Visual impairment Vomiting Lamellar cataract Diarrhea Posterior wedging of vertebral bodies Alopecia Osteoporosis Hypogonadism Carcinoma Postnatal growth retardation Erythema Skin rash Leukemia Acantholysis Respiratory distress Acrokeratosis Conical tooth Smooth philtrum Pulmonic stenosis Narrow chest Prominent nasal bridge Joint laxity Thin upper lip vermilion Pes planus Skeletal dysplasia Taurodontia Gastroesophageal reflux Wide nose Midface retrusion Malar flattening Long philtrum Concave nail Abnormal oral mucosa morphology Delayed speech and language development High palate Cleft palate Hypoplastic-absent sebaceous glands Thin vermilion border Bifid uvula Fever Premature loss of teeth Aplasia/Hypoplastia of the eccrine sweat glands Intellectual disability, severe Short nose Immunodeficiency Recurrent respiratory infections Decreased skull ossification Respiratory tract infection Dry skin Capillary hemangioma Underdeveloped nasal alae Periorbital fullness Short chin Dysphonia Coarse hair Hemangioma Wide anterior fontanel Hyperpigmentation of the skin Rhinitis Large fontanelles Esotropia Prominent nose Lacrimation abnormality Abnormality of the sense of smell Abnormal hair pattern Penoscrotal hypospadias Feeding difficulties in infancy Small hand Triangular face Ambiguous genitalia Decreased body weight Finger clinodactyly Relative macrocephaly Pterygium Unilateral cryptorchidism Microcornea Congenital sensorineural hearing impairment Congenital cataract Coloboma Posteriorly rotated ears Microphthalmia Oligodontia Palmoplantar hyperkeratosis Sensorineural hearing impairment Muscular hypotonia Ventriculomegaly Abnormality of cardiovascular system morphology Retrognathia Delayed skeletal maturation Deeply set eye Talipes Anemia Microcephaly Talipes equinovarus Recurrent infections Severe short stature Proptosis Generalized hypopigmentation Blue irides Small for gestational age Osteopetrosis Patent ductus arteriosus Shallow orbits Profound global developmental delay Spotty hypopigmentation Anisopoikilocytosis Premature graying of hair Albinism Flexion contracture Preauricular pit Motor delay Hypospadias Arrhythmia Finger syndactyly Sparse lateral eyebrow Anal atresia Abnormality of the neck Vertebral wedging Palmar pits Plantar pits Nystagmus Downslanted palpebral fissures Upslanted palpebral fissure Scarring Short philtrum Bulbous nose Hemivertebrae Downturned corners of mouth Highly arched eyebrow Broad nasal tip Horizontal nystagmus Redundant skin Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Aplasia cutis congenita Abnormal eyelash morphology Vertebral fusion Hypogonadotrophic hypogonadism Toe syndactyly Nevus flammeus Facial asymmetry Polymicrogyria Full cheeks Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Arteriovenous malformation Cerebral calcification Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Hearing impairment Brachycephaly Glaucoma Mandibular prognathia Arachnodactyly Iris coloboma Forehead hyperpigmentation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Astigmatism, related diseases and genetic alterations