Brachydactyly, and Prominent nose

Diseases related with Brachydactyly and Prominent nose

In the following list you will find some of the most common rare diseases related to Brachydactyly and Prominent nose that can help you solving undiagnosed cases.


Top matches:

Medium match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

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Other less relevant matches:

Medium match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Prominent nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Prominent nose. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Short stature Anteverted nares Midface retrusion Frontal bossing Macrocephaly Low-set ears High forehead Muscular hypotonia Long philtrum Downturned corners of mouth Abnormal facial shape Growth delay Epicanthus Downslanted palpebral fissures Wide nasal bridge Micrognathia Ptosis Sensorineural hearing impairment Nystagmus Hearing impairment Myopia Dental crowding Relative macrocephaly Autism Nail dysplasia Broad nasal tip Long face Abnormality of the skeletal system Abnormality of the dentition Depressed nasal bridge Brachycephaly Short distal phalanx of finger Behavioral abnormality Cataract Small nail Intellectual disability, severe Coarse facial features Short nose Spasticity Delayed speech and language development Single transverse palmar crease High palate Hyperreflexia Broad forehead

Rare Symptoms - Less than 30% cases


Clinodactyly Flexion contracture Intellectual disability, mild Posteriorly rotated ears Optic atrophy Abnormal heart morphology Feeding difficulties Bilateral sensorineural hearing impairment Bulbous nose Postnatal growth retardation Joint hyperflexibility Convex nasal ridge Intellectual disability, profound Agenesis of permanent teeth Abnormality of dental morphology Renal agenesis Abnormality of the fingernails Wormian bones Short toe Osteopenia Short philtrum Wide mouth Narrow jaw Prominent nasal bridge Drooling Motor delay Abnormality of the skin Pectus excavatum Kyphoscoliosis Strabismus Failure to thrive Disproportionate short stature Overbite Abnormality of the nervous system Gait ataxia Sleep disturbance Abnormality of the foot Talipes equinovarus Absent speech Camptodactyly Anxiety Dolichocephaly Clinodactyly of the 5th finger Hydronephrosis Telecanthus Sparse hair Facial asymmetry Kyphosis Smooth philtrum Microphthalmia Cognitive impairment Agenesis of corpus callosum Malar flattening Prominent forehead Osteoporosis Skeletal dysplasia Thin upper lip vermilion Abnormality of digit Craniosynostosis Anemia Anonychia Carious teeth Hydrocephalus Aggressive behavior Iris coloboma Depressed nasal tip Syndactyly Dental malocclusion Retrognathia Highly arched eyebrow Choreoathetosis Psychosis Overgrowth Ankle contracture Unilateral renal agenesis Chorioretinal coloboma Abnormal palate morphology Specific learning disability Premature loss of teeth Aortic regurgitation Lower limb spasticity Hallucinations Progressive muscle weakness Abnormality of the hand Genu varum Spastic diplegia Ankle clonus Hammertoe Impaired vibratory sensation Emotional lability Aplasia/Hypoplasia of the corpus callosum Spastic gait Scleroderma Aortic aneurysm Spastic paraparesis Cerebellar vermis atrophy Hoarse voice Clonus Slurred speech Short columella Bowing of the legs Prominent nasal tip Skeletal muscle atrophy Dysarthria Short upper lip Lens luxation Lop ear Muscle weakness Profound sensorineural hearing impairment Scleral staphyloma Cerebellar atrophy Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Triphalangeal thumb Abnormal dermatoglyphics Short phalanx of finger Short 2nd toe Dysphagia Babinski sign Gliosis Lower limb muscle weakness Abnormal cerebellum morphology Congenital nystagmus Short foot Thick lower lip vermilion Distal amyotrophy Joint hypermobility Dysmetria Paraplegia Constipation Genu valgum Neurogenic bladder Spastic paraplegia Hypoplasia of teeth Profound global developmental delay Colpocephaly Difficulty walking Pes cavus Short chin Upper limb muscle weakness Progressive visual loss Short palm Short palpebral fissure Fine hair Decreased testicular size Happy demeanor Febrile seizures Ectodermal dysplasia Wide nose Thick eyebrow Pes valgus Thin vermilion border Arachnodactyly Talipes Toe clinodactyly Poor speech Median cleft palate Abnormality of the cerebral white matter Large beaked nose Hemiparesis Thin skin Attention deficit hyperactivity disorder Bilateral talipes equinovarus Self-mutilation Conical tooth Narrow nose Abnormality of the periventricular white matter Restlessness Long nose Cleft soft palate Myopathic facies Generalized osteoporosis Broad-based gait Overlapping toe Excessive salivation Dermal atrophy Tented upper lip vermilion Oligodontia Microretrognathia Long eyelashes Broad thumb Dacryocystitis Incomprehensible speech Esotropia Corneal opacity Panic attack Mental deterioration Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Coloboma Mood swings Suicidal ideation Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Broad hallux phalanx Hip dislocation Microcornea Intellectual disability, moderate Morphea Joint laxity Ventricular septal defect Narrow mouth Hyperactivity Hyperhidrosis Narrow maxilla Conspicuously happy disposition Visual impairment Inguinal hernia Hernia Ventriculomegaly Pes planus Hypoplasia of the corpus callosum Atrial septal defect Congestive heart failure Dilatation Cleft palate Hyperplasia of midface Patent ductus arteriosus Hyperextensible hand joints Hypsarrhythmia Immunodeficiency High myopia Abnormality of epiphysis morphology Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Narrow palate Abnormality of the nail Increased bone mineral density Bone pain Abnormal vertebral morphology Abnormality of the face Back pain Blue sclerae Growth hormone deficiency Hypoplasia of the maxilla Hypodontia Postural instability Recurrent fractures Delayed eruption of teeth Narrow chest Increased susceptibility to fractures Abnormality of the thorax Apnea Abnormal pattern of respiration Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Low back pain Osteomyelitis Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Prominent occiput Hyperlordosis Hepatosplenomegaly Severe short stature Single interphalangeal crease of fifth finger Omphalocele Hypotelorism Oral cleft Protruding ear Cleft lip Macrotia Upslanted palpebral fissure Absent fourth finger distal interphalangeal crease 4-5 toe syndactyly Flat occiput Congenital microcephaly Short middle phalanx of the 5th finger Thoracic scoliosis Hallux valgus Sloping forehead Toe syndactyly Polydactyly Cryptorchidism Holoprosencephaly Partial agenesis of the corpus callosum Proptosis Alobar holoprosencephaly Splenomegaly Hepatomegaly Pain Scoliosis Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Semilobar holoprosencephaly Median cleft lip Parietal bossing Midline defect of the nose Single median maxillary incisor Median cleft lip and palate Bilateral microphthalmos Panhypopituitarism Broad face Bilateral cleft lip and palate Bilateral cleft lip Abnormal pelvis bone ossification Diabetes mellitus Dandy-Walker malformation Limb undergrowth Erythroderma Epiphyseal dysplasia Eosinophilia Coxa valga Lymphopenia Progressive microcephaly Inflammatory abnormality of the skin Generalized-onset seizure Decreased antibody level in blood Opisthotonus Full cheeks Anal atresia Platyspondyly Muscular hypotonia of the trunk Recurrent infections Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Combined immunodeficiency Neurodevelopmental delay Craniofacial dysostosis Blindness Polyneuropathy Everted lower lip vermilion Nail dystrophy Respiratory tract infection Neonatal hypotonia Recurrent respiratory infections Hyporeflexia Cerebral atrophy Respiratory distress Metaphyseal dysplasia Peripheral neuropathy Severe platyspondyly Cervical instability Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Severe combined immunodeficiency Dislocated radial head Congenital ptosis Sparse lateral eyebrow Mandibular prognathia Type II diabetes mellitus Short femoral neck High pitched voice Cone-shaped epiphysis Short metatarsal Widely spaced teeth Azoospermia Pointed chin Gingival overgrowth Waddling gait Low hanging columella Short metacarpal Triangular face Small hand Severe global developmental delay Small for gestational age Microtia Developmental regression Deeply set eye Short finger Oligospermia Decreased skull ossification Underdeveloped nasal alae Exostoses Turricephaly Aniridia Self-injurious behavior Nephroblastoma Sparse eyebrow Cutaneous syndactyly Abnormality of the genital system Delayed puberty Hypoplastic pelvis Autistic behavior Hypothyroidism Micropenis Obesity Hypertension Hypoplastic sacrum Frontal balding Clitoral hypoplasia Breast hypoplasia Posterior staphyloma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypoplasia of the corpus callosum, related diseases and genetic alterations Hepatomegaly and Meningitis, related diseases and genetic alterations Lymphoma and Unsteady gait, related diseases and genetic alterations Micrognathia and Intellectual disability, moderate, related diseases and genetic alterations Anemia and Spasticity, related diseases and genetic alterations Scoliosis and Hyperhidrosis, related diseases and genetic alterations

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