Frontal bossing, and Tapered finger

Diseases related with Frontal bossing and Tapered finger

In the following list you will find some of the most common rare diseases related to Frontal bossing and Tapered finger that can help you solving undiagnosed cases.

Top matches:

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

High match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Top 5 symptoms//phenotypes associated to Frontal bossing and Tapered finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Pectus excavatum Brachydactyly Macrocephaly Anteverted nares Clinodactyly of the 5th finger Thin upper lip vermilion Clinodactyly Scoliosis Constipation Short philtrum Hypoplasia of the corpus callosum Prominent forehead Brachycephaly Broad forehead Abnormality of the dentition Depressed nasal bridge Anxiety Delayed speech and language development Cleft palate Bipolar affective disorder Feeding difficulties Micrognathia Posteriorly rotated ears Small hand Synophrys Short nose Depressivity Epicanthus Intellectual disability Hearing impairment Failure to thrive

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Sleep apnea Aggressive behavior Attention deficit hyperactivity disorder Abnormality of epiphysis morphology Large fontanelles Wide mouth High, narrow palate Narrow chest Hyperactivity Skeletal dysplasia Mandibular prognathia Single transverse palmar crease Recurrent respiratory infections Midface retrusion Short foot Gastroesophageal reflux Joint laxity Hernia Low-set ears Prominent nasal bridge Absent speech Intrauterine growth retardation Thick lower lip vermilion Prominent nose Long face Stereotypy Coarse facial features High palate Microcephaly Macrotia Plagiocephaly Short neck Hypertension Long philtrum High forehead Abnormal facial shape Respiratory tract infection Wormian bones Motor delay Widely spaced teeth Ptosis Blue sclerae Pectus carinatum Wide nose Everted lower lip vermilion Psychosis Large hands Muscular hypotonia Finger clinodactyly Kyphosis Severe short stature Hypospadias Strabismus Spinal canal stenosis Triangular face Spasticity Small nail Abnormality of the hand Deep philtrum Brain atrophy Dystonia Cerebral atrophy Bulbous nose Encephalopathy Inability to walk Osteopenia Narrow palpebral fissure Muscular hypotonia of the trunk Sleep disturbance Dyskinesia Severe global developmental delay Poor speech Smooth philtrum Sparse scalp hair Posterior rib cupping Nystagmus Flat acetabular roof Short long bone Relative macrocephaly Prominent supraorbital ridges Diaphragmatic eventration Metaphyseal irregularity Flat occiput Hypophosphatemia Periventricular leukomalacia Protuberant abdomen Tics Bell-shaped thorax Delayed epiphyseal ossification Large forehead Short middle phalanx of finger High anterior hairline Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Arachnoid cyst Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Infantile spasms Esotropia Anorexia Intellectual disability, profound Joint hyperflexibility Autism Conductive hearing impairment Retrognathia Cleft lip Intellectual disability, moderate Kyphoscoliosis Recurrent pneumonia Small for gestational age Atrial septal defect Talipes equinovarus Pulmonic stenosis Facial asymmetry Growth delay Low-set, posteriorly rotated ears Oral cleft Six lumbar vertebrae Abnormality of skin pigmentation Subvalvular aortic stenosis Broad face Shallow orbits Nasal speech Sandal gap Horseshoe kidney Narrow face Aspiration Pulmonary arterial hypertension Dental crowding Gait ataxia Inguinal hernia Open mouth Facial hypotonia Aortic valve stenosis Dandy-Walker malformation Choreoathetosis Hip dysplasia Severe muscular hypotonia Infantile muscular hypotonia Broad nasal tip Tented upper lip vermilion Cachexia Failure to thrive in infancy Global brain atrophy Hip contracture Profound global developmental delay Patent ductus arteriosus Generalized tonic seizures Appendicular hypotonia Profound static encephalopathy Schizophrenia Ataxia Thick vermilion border Cataract Cognitive impairment Short distal phalanx of finger Gait disturbance Behavioral abnormality Microphthalmia Sparse hair Disproportionate short-limb short stature Pheochromocytoma Wide anterior fontanel Coxa vara Chordee Tethered cord Lower limb hypertonia Narrow nasal tip Cerebral white matter hypoplasia Osteoporosis Carious teeth Genu valgum Recurrent fractures Sloping forehead Abnormality of the ribs Sinusitis Hemivertebrae Abnormality of dental enamel Spina bifida occulta Central hypotonia Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Chronic otitis media Open bite Increased number of teeth Short clavicles Sprengel anomaly Glossoptosis Hearing abnormality Hypoplasia of the zygomatic bone Down-sloping shoulders Hypoplastic scapulae Decreased skull ossification Dystrophic toenail Delayed CNS myelination Syringomyelia Abnormality of the thumb Hypertonia Sensorineural hearing impairment Split hand Low anterior hairline Abnormality of the nail Split foot Moderate hearing impairment Hitchhiker thumb Aplasia of the 2nd finger Abnormality of cardiovascular system morphology Obesity Oligodontia Anodontia Cryptorchidism Wide nasal bridge Cerebellar hypoplasia Narrow nasal bridge Abnormal vertebral morphology Supernumerary nipple Hypoplastic toenails Patent foramen ovale Bilateral ptosis Oculomotor apraxia Clonus Short thumb Joint hypermobility Exotropia Hypertrichosis Apraxia Delayed myelination Highly arched eyebrow Downturned corners of mouth Dystrophic fingernails Dimple chin Rhizomelia Abnormality of reproductive system physiology Abnormality of the endocrine system Dysuria Neoplasm of the endocrine system Deep palmar crease Anterior hypopituitarism Long penis Paraganglioma Hypersomnia Galactorrhea Deep plantar creases Pituitary prolactin cell adenoma Dysmenorrhea Macrodactyly Broad jaw Cortical diaphyseal thickening of the upper limbs Broad foot Platyspondyly Broad thumb Abnormality of the metaphysis Limb undergrowth Short metacarpal Short palm Micromelia Joint stiffness Hepatomegaly Polyhydramnios Respiratory failure Delayed skeletal maturation Splenomegaly Edema Respiratory insufficiency Abnormal toenail morphology Growth hormone excess Abnormal sacrum morphology Macroglossia Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Shoulder muscle hypoplasia Short face Cervical segmentation defect Neck muscle hypoplasia Neoplasm Fatigue Hyperhidrosis Diabetes mellitus Arthralgia Hypertrophic cardiomyopathy Paresthesia Full cheeks Joint swelling Acanthosis nigricans Palpebral edema Generalized hyperpigmentation Impotence Acne Growth abnormality Cerebral palsy Abnormality of the fingernails Migraine Generalized hirsutism Hoarse voice Thickened skin Tall stature Mitral regurgitation Osteoarthritis Testicular torsion


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