Depressed nasal bridge, and Flat face

Diseases related with Depressed nasal bridge and Flat face

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


Top matches:

High match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2


Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

High match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

High match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

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Other less relevant matches:

High match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

High match APERT SYNDROME


Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

High match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

High match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

High match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

High match EVEN-PLUS SYNDROME


EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

High match ACHONDROGENESIS, TYPE IA; ACG1A


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Flat face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hearing impairment Anteverted nares Frontal bossing Seizures Micromelia Proptosis Polyhydramnios Brachydactyly Ventriculomegaly Respiratory insufficiency Hydrocephalus Atrial septal defect Narrow chest Skeletal dysplasia Downslanted palpebral fissures Aplasia/Hypoplasia of the lungs Cloverleaf skull Epicanthus Midface retrusion Severe short stature Global developmental delay High forehead Malar flattening Cognitive impairment Narrow mouth Sensorineural hearing impairment Micrognathia Growth delay Microtia

Rare Symptoms - Less than 30% cases


Short neck Kyphosis Patent ductus arteriosus Lymphopenia Epiphyseal dysplasia Decreased antibody level in blood Abnormality of the kidney Platyspondyly Abnormality of the metaphysis Acanthosis nigricans Short ribs Delayed eruption of teeth Redundant skin Delayed skeletal maturation Blepharophimosis Short femur Hypoplastic ilia Camptodactyly Intellectual disability, mild Increased nuchal translucency Short sacroiliac notch Lethal short-limbed short stature Anemia Talipes equinovarus Macroglossia Low-set ears Mandibular prognathia Ptosis Cleft palate Protruding tongue Abnormality of the dentition Hypoplasia of the maxilla Long philtrum Depressed nasal ridge Abnormality of cardiovascular system morphology Agenesis of corpus callosum Wide nasal bridge Brachycephaly Limb undergrowth Umbilical hernia Edema Short thorax Muscular hypotonia Disproportionate short-limb short stature Wide-cupped costochondral junctions Decreased fetal movement Encephalocele Generalized hypotonia Occipital encephalocele Small abnormally formed scapulae Metaphyseal irregularity Small face Severe short-limb dwarfism Beaded ribs Abnormality of neuronal migration Small foramen magnum Holoprosencephaly Flared metaphysis Broad philtrum Limitation of joint mobility Thin vermilion border Decrease in T cell count Abnormality of neutrophils Impaired T cell function Cataract Cerebral atrophy Posteriorly rotated ears Upslanted palpebral fissure Thin upper lip vermilion Nail dystrophy Congenital cataract Smooth philtrum Tapered finger Joint hyperflexibility Sparse scalp hair Tented upper lip vermilion Radioulnar synostosis Mild short stature Abnormal foot bone ossification Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad eyebrow Craniofacial asymmetry Unossified vertebral bodies High palate Decreased skull ossification Neonatal hypotonia Short chin Corneal opacity Abnormal enchondral ossification Broad clavicles Hypoplastic ischia Femoral hernia Lethal skeletal dysplasia Multiple epiphyseal dysplasia Disproportionate short-trunk short stature Short foot Premature birth Abnormality of the ribs Hydrops fetalis Hypoplasia of the radius Inguinal hernia Growth abnormality Thoracic hypoplasia Cystic hygroma Disproportionate short stature Thin ribs Short clavicles Protuberant abdomen Upper limb undergrowth Thickened nuchal skin fold Barrel-shaped chest Hypoplastic scapulae Abnormal hand bone ossification Respiratory failure Hernia Abnormality of the pinna Deep philtrum Postnatal growth retardation Sparse hair Synophrys Anal atresia Highly arched eyebrow Hypodontia Vesicoureteral reflux Oligohydramnios Renal hypoplasia Inflammatory abnormality of the skin Recurrent urinary tract infections Abnormality of the outer ear Patent foramen ovale Abnormality of the skeletal system Overlapping toe Metaphyseal dysplasia Aplasia cutis congenita Hypoplasia of the odontoid process Atopic dermatitis Bifid nasal tip Coronal cleft vertebrae Anotia Cellular immunodeficiency Vertebral clefting Dysplastic corpus callosum Hypoplastic helices Dysplasia of the femoral head Abnormality of chromosome stability Ovarian neoplasm Chronic bronchitis Dilatation Joint stiffness Intellectual disability, profound Split hand Heterotopia Bowing of the long bones Wide anterior fontanel Femoral bowing Excessive wrinkled skin Abnormality of the sacroiliac joint Motor delay Cardiomyopathy Elevated serum creatine phosphokinase Aplasia/Hypoplasia involving the nose Constipation Hypothyroidism Joint laxity Intellectual disability, moderate Hip dislocation Dry skin Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Limited wrist movement Ulnar deviation of the wrist Coxa vara Flexion contracture Microcephaly Intellectual disability, severe Syndactyly Osteoporosis Lymphedema Hypoproteinemia Intestinal lymphangiectasia Erysipelas Irregular dentition Pulmonary lymphangiectasia Pericardial lymphangiectasia Clinodactyly Ulnar deviation of the hand or of fingers of the hand Telecanthus Camptodactyly of finger Wide nose High, narrow palate Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Ulnar deviation of the hand Lacrimal duct atresia Wormian bones Hypercholesterolemia Communicating hydrocephalus Recurrent respiratory infections Brachyturricephaly Morphological abnormality of the semicircular canal Cervical C5/C6 vertebrae fusion Acrobrachycephaly Failure to thrive Cryptorchidism Diarrhea Immunodeficiency Recurrent infections Hypospadias Pneumonia Respiratory tract infection Corneal erosion Malabsorption Neurodegeneration Sepsis Otitis media Bronchiectasis Sinusitis Recurrent pneumonia Malnutrition Combined immunodeficiency Bronchitis Shawl scrotum Agammaglobulinemia Ectopic anus Esophageal atresia Relative macrocephaly Feeding difficulties in infancy Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Strabismus Visual impairment Hypertension Optic atrophy Conductive hearing impairment Broad forehead Aplasia/Hypoplasia of the thumb Finger syndactyly Toe syndactyly Facial asymmetry Bifid uvula Convex nasal ridge Choanal atresia Broad thumb Large fontanelles Narrow palate Arnold-Chiari malformation Vertebral segmentation defect Absent septum pellucidum Abnormality of the femoral metaphysis



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