Depressed nasal bridge, and Talipes

Diseases related with Depressed nasal bridge and Talipes

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


Top matches:

High match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


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

High 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

High match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

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Other less relevant matches:

High match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

High match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

High match X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE


X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

High match EHLERS-DANLOS SYNDROME TYPE 7B


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

High match ATELOSTEOGENESIS TYPE II


Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

High match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA


NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

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 Talipes

Symptoms // Phenotype % cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Pulmonary hypoplasia Respiratory failure Proptosis Anteverted nares Frontal bossing Short neck Microcephaly Hypertelorism Kyphosis Low-set ears Bilateral talipes equinovarus Narrow chest

Rare Symptoms - Less than 30% cases


Flexion contracture Midface retrusion Skeletal dysplasia Sandal gap Flat acetabular roof Cervical kyphosis Horizontal sacrum Short nose Abnormality of metabolism/homeostasis Upper limb undergrowth Hip dislocation Thoracic hypoplasia Gastroesophageal reflux Micromelia Intellectual disability Hyperlordosis Umbilical hernia Hernia Short stature Generalized hypotonia Absent speech Short foot Polyhydramnios Seizures Malar flattening High forehead Pes planus Abnormal facial shape Growth delay Hypoplasia of the corpus callosum Pterygium Protruding ear Laryngeal stenosis Mesomelic short stature Aplasia/hypoplasia of the extremities Tracheobronchomalacia Short sacroiliac notch Abnormality of the cerebral white matter Dumbbell-shaped femur Cataract Spasticity Muscular hypotonia of the trunk Cerebral cortical atrophy High palate Hyperreflexia Coronal cleft vertebrae Macrotia Optic atrophy Blindness Cerebellar atrophy Cerebral atrophy Cerebellar hypoplasia Skeletal muscle atrophy Hypoplasia of the ulna Downslanted palpebral fissures Fragile skin Blue sclerae Osteoarthritis Congenital hip dislocation Wormian bones Joint dislocation Delayed gross motor development Hyperextensible skin Hallux valgus Atrophic scars Soft skin Sloping forehead Hyperextensibility of the finger joints Poor wound healing Excessive wrinkled skin Subcutaneous hemorrhage Respiratory insufficiency Platyspondyly Polydactyly Lumbar hyperlordosis Patent foramen ovale Short middle phalanx of finger Delayed myelination Narrow forehead Bruising susceptibility Hypoplastic scapulae Short thorax Cystic hygroma Disproportionate short stature Thin ribs Protruding tongue Short clavicles Protuberant abdomen Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Barrel-shaped chest Decreased skull ossification Growth abnormality Disproportionate short-trunk short stature Multiple epiphyseal dysplasia Lethal skeletal dysplasia Femoral hernia Hypoplastic ischia Broad clavicles Abnormal enchondral ossification Beaded ribs Unossified vertebral bodies Abnormal foot bone ossification Abnormal hand bone ossification Epiphyseal dysplasia Hypoplasia of the radius Hypsarrhythmia Macrocephaly Tetraparesis Cerebral visual impairment Progressive microcephaly Clonus Narrow palate Spastic tetraparesis Plagiocephaly Multiple joint contractures Hypoventilation Central hypotonia Central hypoventilation Abnormality of the skeletal system Short chin Edema Long philtrum Abnormality of cardiovascular system morphology Inguinal hernia Corneal opacity Flat face Premature birth Limb undergrowth Abnormality of the ribs Hydrops fetalis Short ribs Recurrent fractures Hip dysplasia Joint hypermobility Hydroureter Sparse hair Hypoplasia of penis Ambiguous genitalia Oligohydramnios Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Bifid scrotum Tracheoesophageal fistula Decreased fertility Hydronephrosis Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anal atresia Micropenis Abnormality of the bladder Knee dislocation Spotty hypopigmentation Hypoplasia of the maxilla Rhizomelia Profound global developmental delay Disproportionate short-limb short stature Elbow dislocation Prominent occiput Tibial bowing Radial bowing Hypopigmented skin patches Sparse and thin eyebrow Posteriorly rotated ears Hitchhiker thumb Hypopigmentation of the skin Cervical segmentation defect Widened distal phalanges Tombstone-shaped proximal phalanges Cryptorchidism Ventricular septal defect Atrial septal defect Short distal phalanx of finger Small for gestational age Hypospadias Anorectal anomaly Bilateral lung agenesis Joint hyperflexibility Patellar hypoplasia Short umbilical cord Recurrent infections Brachydactyly Anemia Strabismus Pain Epicanthus Intellectual disability, severe Hyperactivity Median cleft palate Hirsutism Thoracic kyphoscoliosis Small hand Foot polydactyly Intellectual disability, profound Bruxism Preaxial polydactyly Muscle weakness Osteoporosis Cardiomegaly Joint laxity Anisopoikilocytosis Abnormality of the diaphragm Ulnar deviation of the hand Unilateral renal hypoplasia Myopathy Fetal pyelectasis Rectal fistula Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Telecanthus Hypertension Intrauterine growth retardation Osteopenia Preeclampsia Kyphoscoliosis Thin upper lip vermilion Camptodactyly Arthrogryposis multiplex congenita Triangular face Decreased fetal movement Joint contracture of the hand Adducted thumb Congenital contracture Ankylosis Cardiorespiratory arrest Abnormality of the femoral metaphysis



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