Depressed nasal bridge, and Abnormality of skin pigmentation

Diseases related with Depressed nasal bridge and Abnormality of skin pigmentation

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


Top matches:

Low match LEOPARD SYNDROME 2; LPRD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Low match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


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

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Other less relevant matches:

Low match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


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

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


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 FOCAL FACIAL DERMAL DYSPLASIA TYPE III


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

Low match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Low match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Frontal bossing Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Sparse hair Sparse and thin eyebrow Thick vermilion border Macrocephaly Abnormal facial shape Short distal phalanx of finger Short stature Generalized hypotonia Depressed nasal ridge Epicanthus Webbed neck Dry skin Hypertension Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Hypodontia Soft skin Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Thin skin Anhidrosis Absent eyebrow Hypohidrosis Ectodermal dysplasia Sparse eyelashes Type I diabetes mellitus Anodontia Microdontia Hoarse voice Oligodontia Periorbital wrinkles Heat intolerance Absent eyelashes Eczema Broad neck Prominent supraorbital ridges Low posterior hairline Wide intermamillary distance Leukemia Midface retrusion Malar flattening Seizures Multiple cafe-au-lait spots Anterior hypopituitarism Downturned corners of mouth Upslanted palpebral fissure Polymicrogyria Wide mouth Deeply set eye Periorbital hyperpigmentation Everted upper lip vermilion Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Delayed eruption of teeth Nystagmus Everted lower lip vermilion High forehead Hypotrichosis Cafe-au-lait spot Dolichocephaly Scoliosis Feeding difficulties Atrial septal defect Prominent forehead Pulmonic stenosis Anemia Cubitus valgus Telecanthus Spotty hypopigmentation Hypopigmentation of the skin Hyperkeratosis Hyperhidrosis Hypopigmented skin patches Taurodontia Abnormal oral mucosa morphology Cerebellar atrophy Visual loss Abnormal heart morphology Brachycephaly Ichthyosis Elevated hepatic transaminase Coloboma Hearing impairment Palmoplantar keratoderma Mandibular prognathia Cerebellar vermis hypoplasia Hypertrichosis Inflammatory abnormality of the skin Motor delay Almond-shaped palpebral fissure Hypointensity of cerebral white matter on MRI Generalized hirsutism Poor speech Thin vermilion border Hirsutism Short foot Nail dysplasia Thick lower lip vermilion Increased body weight Aplasia/Hypoplastia of the eccrine sweat glands Regional abnormality of skin Broad hallux Myeloid leukemia Acute myeloid leukemia Hypertrophic cardiomyopathy Echolalia Broad face Abnormal hair whorl Optic nerve hypoplasia Cutis laxa Abnormality of coagulation Erythroderma Immunodeficiency Pectus excavatum of inferior sternum Inguinal freckling Fever Respiratory distress Intellectual disability, severe Abnormality of the dentition Short nose Recurrent respiratory infections Concave nail Respiratory tract infection Conical tooth Hypoplasia of the maxilla Underdeveloped nasal alae Sparse scalp hair Short chin Dysphonia Brittle hair Optic nerve glioma Prominent nasolabial fold Rhinitis Delayed speech and language development Microcytic anemia Type I transferrin isoform profile Anterior pituitary hypoplasia Reduced antithrombin III activity Muscle weakness Synophrys Ptosis Posteriorly rotated ears Superior pectus carinatum Specific learning disability Relative macrocephaly Neurofibromas Freckling Acute lymphoblastic leukemia Secundum atrial septal defect Lisch nodules Axillary freckling Cryptorchidism Abnormality of the sternum Nail dystrophy Finger syndactyly Muscular hypotonia Optic atrophy Ventriculomegaly Hydrocephalus Abnormality of cardiovascular system morphology Arrhythmia Pectus carinatum Toe syndactyly Neoplasm Facial asymmetry Joint hyperflexibility Full cheeks Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Failure to thrive Narrow forehead Foot polydactyly Severe short stature Anisopoikilocytosis Profound global developmental delay Talipes Small for gestational age Palmoplantar hyperkeratosis Osteopenia Proptosis Recurrent infections Hyperpigmentation of the skin Anteverted nares Talipes equinovarus Brachydactyly Growth delay Microcephaly Thickened helices Mild short stature Poor suck Telangiectasia of the skin Nevus flammeus Aggressive behavior Distichiasis Abnormal eyelash morphology Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Lacrimation abnormality Abnormality of the upper urinary tract Dimple chin Abnormality of the sacroiliac joint Prematurely aged appearance Sparse lower eyelashes Congenital horizontal nystagmus Multiple lentigines Curly hair Absent speech Micropenis Macrotia Pes planus Aplasia cutis congenita Cognitive impairment Arteriovenous malformation Wide nasal bridge Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Abnormality of the skeletal system Micrognathia Strabismus Dysphagia Aplasia/Hypoplasia of the skin Scarring Short philtrum Anal atresia Bulbous nose Highly arched eyebrow Broad nasal tip Horizontal nystagmus Redundant skin Hypoplastic-absent sebaceous glands



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