Depressed nasal bridge, and Triangular face

Diseases related with Depressed nasal bridge and Triangular face

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


Top matches:

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

High match PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

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Other less relevant matches:

High match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

High match DWARFISM WITH TALL VERTEBRAE


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

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 AL KAISSI SYNDROME; ALKAS


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

High match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

High match VAN DEN ENDE-GUPTA SYNDROME


Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Intrauterine growth retardation Failure to thrive Growth delay Decreased body weight Short stature Malar flattening Anteverted nares Long philtrum Wide nasal bridge Seizures Thin vermilion border Smooth philtrum Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Asthma Intellectual disability, severe Clinodactyly Narrow mouth Blepharophimosis Joint hypermobility Synophrys High palate Microcephaly Scoliosis Congenital contracture Wide mouth Hydronephrosis Severe short stature Talipes equinovarus Broad-based gait Abnormality of the skeletal system Pectus excavatum Pes planus Small for gestational age Joint contracture of the hand Slender long bone Camptodactyly Flexion contracture Pointed chin Short philtrum High, narrow palate Decreased liver function Downslanted palpebral fissures Anxiety Ptosis Wide anterior fontanel Hepatomegaly Micrognathia Convex nasal ridge Ulnar bowing Glenoid fossa hypoplasia Distal ulnar hypoplasia Abnormality of the kidney Narrow foot Cirrhosis Abnormal bleeding Camptodactyly of toe Oligohydramnios Ambiguous genitalia Coarctation of aorta Pancytopenia Long hallux Telangiectasia Lateral clavicle hook Eclabion Hepatic fibrosis Hydrops fetalis Hepatosplenomegaly Patent ductus arteriosus Hypoplastic scapulae Macrodontia Bowing of the long bones Narrow forehead Hemivertebrae Short chin Sacral dimple Severe intrauterine growth retardation Deep palmar crease Malar rash Thrombocytopenia Nevus flammeus of the forehead Long metacarpals Decreased head circumference Anemia Ventricular septal defect Atrial septal defect Edema Splenomegaly Situs inversus totalis Cutis laxa Elbow flexion contracture Dandy-Walker malformation Dislocated radial head Macrotia Protruding ear Craniosynostosis Broad nasal tip Arachnodactyly Everted lower lip vermilion Thin ribs Narrow nose Narrow nasal bridge Femoral bowing Hallux valgus Stridor Laryngomalacia Knee flexion contracture Hypoplasia of the maxilla Underdeveloped nasal alae Respiratory distress Cleft palate Deep philtrum Micronodular cirrhosis Poor suck Patent foramen ovale Cardiac arrest Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Choanal stenosis Abnormal eyebrow morphology Functional respiratory abnormality Single umbilical artery Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Sclerocornea Abnormality of glutamine metabolism Muscular hypotonia Dental crowding Pulmonary hypoplasia Small hand Prominent nose Large face Hearing impairment Cryptorchidism Feeding difficulties Coarse facial features Carcinoma Bulbous nose Cafe-au-lait spot Multiple renal cysts Scrotal hypoplasia Prominent forehead Deeply set eye Poor speech Wide nose Thick vermilion border Widely spaced teeth Frontal bossing Severe failure to thrive CNS hypomyelination Hypospadias Hyperparathyroidism Absent speech Intellectual disability, moderate Highly arched eyebrow Focal-onset seizure Generalized-onset seizure Nephrocalcinosis Obsessive-compulsive behavior Unilateral renal agenesis Obsessive-compulsive trait Infantile muscular hypotonia High forehead Elevated hepatic transaminase Apnea Polymicrogyria Renal cyst Large fontanelles Severe muscular hypotonia Lissencephaly Short neck Delayed skeletal maturation Abnormal cardiac septum morphology Abnormality of the diaphragm Adducted thumb Pterygium Bilateral talipes equinovarus Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Short umbilical cord Talipes Delayed speech and language development Epicanthus Hypoplasia of the corpus callosum Posteriorly rotated ears Brachycephaly Telecanthus Postnatal growth retardation Abnormality of the pinna Decreased fetal movement Arthrogryposis multiplex congenita Clinodactyly of the 5th finger Scapular winging Mandibular prognathia Hyperlordosis Hip dislocation Dolichocephaly Thick eyebrow Decreased testicular size Short ribs Coxa vara Spina bifida occulta Kyphoscoliosis Short thorax Short 5th finger Hypoplastic pelvis Increased vertebral height Hypertension Myopathy Respiratory failure Polyhydramnios Slender metacarpals



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Facial asymmetry, related diseases and genetic alterations Fever and Agenesis of corpus callosum, related diseases and genetic alterations Wide nasal bridge and Encephalocele, related diseases and genetic alterations

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