Depressed nasal bridge, and Pes planus

Diseases related with Depressed nasal bridge and Pes planus

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Other less relevant matches:

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

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

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Pes planus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Malar flattening Frontal bossing Hypertelorism Seizures Cleft palate Global developmental delay Long philtrum Coxa vara Clinodactyly Synophrys Postnatal growth retardation Hip dislocation Hyperlordosis Clinodactyly of the 5th finger Short neck Abnormality of the skeletal system Anteverted nares Intrauterine growth retardation Pointed chin Talipes equinovarus Epicanthus Delayed speech and language development Low-set ears Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Bulbous nose Macrocephaly Wormian bones Pectus carinatum Aggressive behavior Abnormal cardiac septum morphology Small hand Strabismus Gastroesophageal reflux Micrognathia Kyphosis Respiratory distress Joint hyperflexibility Joint laxity Midface retrusion High, narrow palate Behavioral abnormality Blue sclerae Mandibular prognathia Short ribs Hirsutism Hearing impairment Thin vermilion border Narrow chest Hypoplasia of the corpus callosum Ptosis Long fingers Wide nasal bridge Posteriorly rotated ears Short clavicles Patellar hypoplasia Sacral dimple Small for gestational age Triangular face Joint hypermobility Pectus excavatum Thin upper lip vermilion Severe short stature Short femoral neck Glaucoma Camptodactyly of finger Retinopathy of prematurity Hypotrichosis Low-set, posteriorly rotated ears Flat face Proptosis Ventricular septal defect Chalazion Coxa magna Obesity Widely spaced teeth Shallow acetabular fossae Limitation of joint mobility Microcephaly Failure to thrive Muscular hypotonia Hypertension Hyperreflexia Atrial septal defect Intellectual disability, mild Patent ductus arteriosus Narrow mouth Dyspnea Protruding ear Retinopathy Arachnodactyly Highly arched eyebrow Esotropia Long toe Chronic otitis media Moderate global developmental delay Bifid nose Mild global developmental delay Blepharitis Shawl scrotum Slender finger Congenital contracture Pulmonary arterial hypertension Bicuspid aortic valve Single transverse palmar crease Sandal gap Bilateral single transverse palmar creases Abnormality of epiphysis morphology Long eyelashes Thick vermilion border Patellar dislocation Round face Aplastic clavicle Increased bone mineral density Increased susceptibility to fractures Cone-shaped epiphysis Neonatal respiratory distress Thickened calvaria Increased number of teeth Syringomyelia Cone-shaped epiphyses of the phalanges of the hand Abnormality of the clavicle Hypoplastic scapulae Hypoplastic iliac wing Osteolytic defects of the phalanges of the hand Spondylolisthesis Short middle phalanx of the 5th finger Cervical ribs Hypoplasia of dental enamel Large foramen magnum Long second metacarpal Persistent open anterior fontanelle Wide pubic symphysis Delayed pubic bone ossification Absent paranasal sinuses Short middle phalanx of the 2nd finger Spondylolysis Delayed eruption of permanent teeth Moderately short stature Hypoplastic frontal sinuses Parietal bossing Absent frontal sinuses Delayed eruption of primary teeth Parietal foramina Large fontanelles Recurrent otitis media Short metacarpal Relative macrocephaly Truncal obesity Acne Elbow dislocation Epiphyseal dysplasia Metaphyseal widening Radioulnar synostosis Disproportionate short-limb short stature Broad foot Short long bone Accelerated skeletal maturation Coxa valga Short phalanx of finger Broad thumb Abnormality of the metaphysis Abnormal eyelash morphology Laryngotracheomalacia Otitis media Brachydactyly Dental malocclusion Delayed eruption of teeth Genu valgum Intellectual disability, moderate Skeletal dysplasia Abnormality of the dentition Abnormality of the femoral neck or head region Bell-shaped thorax Knee dislocation Advanced ossification of carpal bones Toe clinodactyly Aplasia/Hypoplasia of the abdominal wall musculature Broad ribs Genu recurvatum Severe expressive language delay Optic atrophy Hypoplastic helices Poor wound healing Bruising susceptibility Recurrent fractures Osteoarthritis Congenital hip dislocation Joint dislocation Delayed gross motor development Hyperextensible skin Hallux valgus Atrophic scars Fragile skin Soft skin Hyperextensibility of the finger joints Excessive wrinkled skin Osteoporosis Subcutaneous hemorrhage Absent speech Upslanted palpebral fissure Micropenis Macrotia Deeply set eye Wide mouth Leukemia Nail dystrophy Poor speech Dry skin Downturned corners of mouth Short foot Umbilical hernia Hernia Nail dysplasia Bilateral talipes equinovarus Cognitive impairment Syndactyly Bifid uvula Flat occiput Submucous cleft hard palate Abnormally large globe Polydactyly Talipes Hip dysplasia Cardiomegaly Pterygium Preaxial polydactyly Foot polydactyly Muscle weakness Median cleft palate Hypospadias Delayed skeletal maturation Dolichocephaly Thick eyebrow Decreased testicular size Scapular winging Spina bifida occulta Short thorax Slender long bone Short 5th finger Hypoplastic pelvis Increased vertebral height Hypopigmentation of the skin Wide intermamillary distance Mild myopia Dental crowding Myopia Constipation High forehead Kyphoscoliosis Retrognathia Anxiety Facial asymmetry Renal agenesis Lumbar hyperlordosis Open mouth Mitral regurgitation Clumsiness Stereotypy Nevus flammeus of the forehead Exotropia Narrow palate Optic nerve hypoplasia Overlapping toe Disproportionate tall stature Maternal diabetes Small face Long hallux Hyperplasia of the maxilla Vertebral clefting Thoracic kyphoscoliosis Expressive language delay Ureteral stenosis Decreased head circumference Malar rash Low posterior hairline Regional abnormality of skin Increased body weight Generalized hirsutism Prominent supraorbital ridges Broad hallux Myeloid leukemia Acute myeloid leukemia Broad neck Echolalia Broad face Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Hypointensity of cerebral white matter on MRI Macrodontia High palate Brachycephaly Telecanthus Abnormality of the pinna Smooth philtrum Broad nasal tip Narrow forehead Broad-based gait Decreased body weight Hemivertebrae Short chin Severe intrauterine growth retardation Deep palmar crease Abnormal facility in opposing the shoulders


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