Depressed nasal bridge, and Hypopigmentation of the skin

Diseases related with Depressed nasal bridge and Hypopigmentation of the skin

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

Top matches:

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

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

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

Other less relevant matches:

Medium match ISOLATED ANIRIDIA

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Medium match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Medium match GAPO SYNDROME

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Anteverted nares Growth delay Micrognathia Cryptorchidism Hypopigmented skin patches Short stature Cleft upper lip Strabismus Nystagmus Generalized hypotonia Failure to thrive Upslanted palpebral fissure Microcephaly Micropenis Sensorineural hearing impairment Intellectual disability, moderate Deeply set eye Dilatation Long philtrum Abnormal form of the vertebral bodies Choanal atresia Macrotia Cleft lip Thick vermilion border Optic atrophy Seizures Short philtrum Cleft palate Myopia Hypogonadism Sparse and thin eyebrow Talipes equinovarus Cataract High forehead Sparse hair High palate Coarse facial features Renal dysplasia Low-set ears

Rare Symptoms - Less than 30% cases

Microcornea Recurrent urinary tract infections Visual loss Neoplasm Clinodactyly Microphthalmia Hypoplasia of the thymus Ptosis Glaucoma Abnormality of the skeletal system Feeding difficulties Congenital cataract Gait ataxia Muscular hypotonia of the trunk Agenesis of corpus callosum Hypoplasia of the corpus callosum Intellectual disability, severe Hypertonia Muscular hypotonia Polymicrogyria Fair hair Exotropia Thick eyebrow Depressed nasal tip Ectrodactyly Hypoplastic nipples Renal tubular acidosis Coarse hair Renal hypoplasia/aplasia Triangular face Sparse eyelashes Acidosis Hypopigmentation of the fundus Ectodermal dysplasia Vesicoureteral reflux Hypodontia Hypoplasia of the maxilla Toe syndactyly Anosmia Finger syndactyly Blepharophimosis Delayed skeletal maturation Hypospadias Mandibular prognathia Blue irides Aplasia/Hypoplasia of the macula Abnormality of the pinna Broad forehead Congestive heart failure Joint hyperflexibility Abnormal palate morphology Keratoconus Albinism EEG abnormality Motor delay Ataxia Downslanted palpebral fissures Pes planus Absent speech Midface retrusion Malar flattening Aplasia/Hypoplasia of the skin Short distal phalanx of finger Sleep disturbance Spotty hypopigmentation Hypertension Epicanthus Wide nasal bridge Prominent nose Scarring Wide mouth Anal atresia Prominent forehead Downturned corners of mouth Aplasia/Hypoplasia of the corpus callosum Specific learning disability Clinodactyly of the 5th finger Lacrimation abnormality Narrow forehead Open mouth Aganglionic megacolon Finger clinodactyly Prematurely aged appearance Aggressive behavior Short neck Pneumonia Wide intermamillary distance Thin vermilion border Increased body weight Nail dystrophy Echolalia Recurrent infections Protruding ear Severe global developmental delay Postnatal growth retardation Dry skin Sepsis Failure of eruption of permanent teeth Heterotopia Left ventricular hypertrophy Small cerebral cortex Clubbing of fingers Cerebral cortical atrophy Decreased body weight Misalignment of teeth Narrow foot Abnormality of retinal pigmentation Intermittent hyperventilation Decreased liver function Rod-cone dystrophy Progressive microcephaly Progressive neurologic deterioration Cerebellar vermis hypoplasia Respiratory failure Neutropenia Abnormal pattern of respiration Decreased antibody level in blood Pes valgus Thickened helices Hypotelorism Ventricular hypertrophy Happy demeanor Breathing dysregulation Abnormality of the helix High, narrow palate Delayed myelination Wide nose Pulmonary hypoplasia Dilated cardiomyopathy Joint stiffness Respiratory tract infection Feeding difficulties in infancy Hypertrophic cardiomyopathy Large beaked nose Square face Recurrent respiratory infections Cerebellar atrophy Broad fingertip Bowing of the long bones White forelock Abnormality of the thumb Abnormality of the upper limb White hair Abnormality of the lower limb Large earlobe Heterochromia iridis Postaxial hand polydactyly Short tibia Abnormal eyebrow morphology Broad thumb Intestinal pseudo-obstruction Bilateral single transverse palmar creases Horseshoe kidney Postaxial foot polydactyly Sandal gap Abnormality of the metacarpal bones Short long bone Elbow dislocation Synostosis of carpal bones Premature graying of hair Tibial bowing Tarsal synostosis Venous insufficiency Hand oligodactyly Cerebellar hypoplasia Spasticity Triangular nasal tip Overhanging nasal tip Immunodeficiency Hydrocephalus Fibular hypoplasia Myopathy Cardiomyopathy Respiratory distress Ventriculomegaly Hyperreflexia Peripheral neuropathy Muscle weakness Arrhinencephaly True anophthalmia Camptodactyly of 2nd-5th fingers Lacrimal gland hypoplasia Hypoplasia of the premaxilla Synostosis of joints White eyebrow Low-set, posteriorly rotated ears Hip dislocation Foot oligodactyly White eyelashes Macrodontia Lymphopenia Decreased proportion of CD4-positive T cells Aspiration Cholestasis Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Portal hypertension Corneal dystrophy Hypercholesterolemia Spina bifida occulta Multicystic kidney dysplasia Hemivertebrae Pointed chin Abnormal vertebral morphology Lymphedema Hypertriglyceridemia Long nose Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Gastrointestinal hemorrhage Round face Flat face Hepatic failure Cirrhosis Abnormality of skin pigmentation Stage 5 chronic kidney disease Delayed puberty Chorioretinal atrophy Prolonged neonatal jaundice Pulmonic stenosis Arterial stenosis Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Fat malabsorption Telangiectasia of the skin Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Malabsorption Pruritus Recurrent bacterial infections Aspiration pneumonia Acrocyanosis Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Cellular immunodeficiency Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Renal tubular dysfunction Ocular albinism Severe failure to thrive IgG deficiency Abnormality of the optic disc Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Leukopenia Recurrent aspiration pneumonia Abnormality of the thymus Stroke Ventricular septal defect Retinopathy Abnormality of the liver Craniosynostosis Abnormality of the kidney Carcinoma Conductive hearing impairment Elevated hepatic transaminase Hepatosplenomegaly Jaundice Brachycephaly Areflexia Renal insufficiency Intellectual disability, mild Atrial septal defect Intrauterine growth retardation Abnormality of the cerebellar vermis Hepatomegaly Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Esophagitis Nasolacrimal duct obstruction Hiatus hernia Anophthalmia Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Nephroblastoma Abnormal glucose tolerance Ectopia lentis Bilateral ptosis Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Type I diabetes mellitus Amblyopia Dental crowding Dandy-Walker malformation Retinal detachment Falls Arachnodactyly Ocular pain Lower limb hypertonia Attention deficit hyperactivity disorder Hydronephrosis Hypoplasia of dental enamel Split hand Sparse scalp hair Fine hair Microdontia Renal agenesis Growth hormone deficiency Lymphoma Nevus Oral cleft Carious teeth Microtia Photophobia Central hypothyroidism Hyperkeratosis Polydactyly Syndactyly Flexion contracture Increased proinsulin:insulin ratio Hypoplasia of the antihelix Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Smooth philtrum Coloboma Hypogonadotrophic hypogonadism Depressed nasal ridge Distichiasis Dimple chin Abnormality of the upper urinary tract Periorbital fullness Abnormal hair pattern Sparse lateral eyebrow Absent eyelashes Abnormal eyelash morphology Aplasia cutis congenita Multiple cafe-au-lait spots Redundant skin Horizontal nystagmus Broad nasal tip Sparse lower eyelashes Highly arched eyebrow Bulbous nose Anisopoikilocytosis Profound global developmental delay Talipes Small for gestational age Telecanthus Osteopenia Proptosis Severe short stature Brachydactyly Anemia Abnormality of the sacroiliac joint Congenital horizontal nystagmus Rigidity Broad face Hypothyroidism Reduced visual acuity Hyperactivity Diabetes mellitus Kyphosis Blindness Tremor Pain Hypointensity of cerebral white matter on MRI Regional abnormality of skin Almond-shaped palpebral fissure Abnormal hair whorl Broad neck Macrocephaly Acute myeloid leukemia Myeloid leukemia Broad hallux Prominent supraorbital ridges Generalized hirsutism Low posterior hairline Nail dysplasia Short foot Hirsutism Poor speech Synophrys Leukemia Hypohidrosis Abnormality of dental enamel Hyperventilation Asymmetry of the thorax Anxiety Gastroesophageal reflux Autism Pes cavus Constipation Encephalopathy Fatigue Scoliosis Early balding Hypoplastic areola Tetraamelia Dysmenorrhea Thick nasal alae Autistic behavior Fingernail dysplasia Abnormality of the cerebral vasculature Abnormality of the neck Oligospermia Decreased skull ossification Skin tags Abnormality of the clavicle Palpebral edema Underdeveloped supraorbital ridges Abnormality of the thorax Sparse eyebrow Hyperextensible skin Apnea Prominent nasal bridge Increased intracranial pressure Widely spaced teeth Hodgkin lymphoma Dysphasia Aphasia Supernumerary nipple Overlapping toe Cupped ear Clubbing Self-injurious behavior Short metatarsal Incoordination Mutism Sleep apnea Intellectual disability, progressive Neurological speech impairment Abnormal autonomic nervous system physiology Truncal ataxia Postnatal microcephaly Thick lower lip vermilion Cyanosis Convex nasal ridge Full cheeks Abdominal distention Single transverse palmar crease Tapered finger Small hand Astigmatism Abnormality of pelvic girdle bone morphology Hemangioma Cutaneous syndactyly Sparse axillary hair Thin nail Urethral stenosis Selective tooth agenesis Central diabetes insipidus Inflammatory abnormality of the eye Bladder diverticulum Aplasia/Hypoplasia of the nipples Slow-growing hair Entropion Anterior hypopituitarism Sparse pubic hair Dysuria Generalized hypopigmentation Abnormality of the nasopharynx Corneal erosion Taurodontia Split foot Xerostomia Blepharitis External ear malformation Aplasia/Hypoplasia of the thumb Hydroureter Keratitis Hypoplastic toenails Proximal placement of thumb Reduced number of teeth Duplicated collecting system Nail pits Abnormality of the outer ear Arrhythmia Atherosclerosis Aminoaciduria Nephrolithiasis Abnormality of the metaphysis Small nail Amenorrhea Delayed eruption of teeth Everted lower lip vermilion Hypotrichosis Umbilical hernia Hyperhidrosis Alopecia Abnormality of the dentition Abnormality of the middle ear Visual impairment Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Megacystis Urethral atresia Dacryocystitis Ureterocele Butterfly vertebral arch


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