Frontal bossing, and Clinodactyly of the 5th finger

Diseases related with Frontal bossing and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Frontal bossing and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

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:

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

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

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

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

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Top 5 symptoms//phenotypes associated to Frontal bossing and Clinodactyly of the 5th finger

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

Other less frequent symptoms

Patients with Frontal bossing and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Micrognathia Long philtrum Hypertelorism Brachycephaly High palate Generalized hypotonia Short foot Joint hypermobility Triangular face Wide nasal bridge Anteverted nares Depressed nasal bridge Macrocephaly Delayed speech and language development Abnormality of the dentition Prominent forehead Narrow mouth Short neck Low-set ears Midface retrusion Clinodactyly Mandibular prognathia Delayed skeletal maturation Microcephaly

Rare Symptoms - Less than 30% cases

Patent foramen ovale Syndactyly Increased number of teeth Myopia Epicanthus Cataract Abnormality of the ribs Hypoplastic toenails Deeply set eye Spina bifida occulta Coxa vara Narrow chest Skeletal dysplasia Short ribs Cleft palate Camptodactyly of finger Scoliosis Small hand Hypoplastic scapulae Broad long bones Feeding difficulties Cryptorchidism Hearing abnormality Strabismus Pectus carinatum Short palm Hyperlordosis Synophrys Sparse eyelashes Abnormality of dental enamel Dental crowding Large fontanelles Underdeveloped nasal alae Thin upper lip vermilion Delayed eruption of teeth Tapered finger Hearing impairment Muscular hypotonia Hyperactivity Broad nasal tip Hernia Aggressive behavior Stereotypy Failure to thrive Short nose Pointed chin Malar flattening Overgrowth Abnormal facial shape Hypospadias Finger clinodactyly Severe short stature Hypoplasia of the corpus callosum Motor delay Growth delay Abnormality of the thumb Dystrophic fingernails Dystrophic toenail Dimple chin Shoulder muscle hypoplasia Abnormal sacrum morphology Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Narrow greater sacrosciatic notches Short face Cervical segmentation defect Neck muscle hypoplasia Macrotia Osteopenia Abnormality of the nervous system Protruding ear Decreased skull ossification Wide anterior fontanel Down-sloping shoulders Dumbbell-shaped long bone Widely patent coronal suture Recurrent respiratory infections Osteoporosis Pear-shaped vertebrae Broad forehead Carious teeth Broad ischia Genu valgum High, narrow palate Recurrent fractures Sloping forehead Abnormality of epiphysis morphology Hypoplasia of the zygomatic bone Sinusitis Wormian bones Hemivertebrae Sleep apnea Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Chronic otitis media Open bite Posterior rib cupping Short clavicles Glossoptosis Thin clavicles Sprengel anomaly Long clavicles Sparse hair Platyspondyly Respiratory insufficiency Proptosis Megalocornea Camptodactyly Protuberant abdomen Fibular hypoplasia Thin ribs Thoracic hypoplasia Short long bone Abnormality of the pinna Micromelia Bell-shaped thorax Flat face Round face Plagiocephaly Limb undergrowth Joint contracture of the hand High myopia Abnormality of the metaphysis Hydrops fetalis Abnormal form of the vertebral bodies Omphalocele Rhizomelia Shortening of all phalanges of fingers Hypoplastic fingernail Anterior rib cupping Exostoses Smooth philtrum Bulbous nose Hypoplastic ischia Short distal phalanx of finger Short metacarpal Convex nasal ridge Short phalanx of finger Sparse and thin eyebrow Short metatarsal Cone-shaped epiphysis Short finger Fragile nails Bifid tongue Sparse lateral eyebrow Avascular necrosis of the capital femoral epiphysis Abnormal diaphysis morphology Metaphyseal cupping Leukonychia Long upper lip Pear-shaped nose Broad ribs Coxa magna Accelerated bone age after puberty Cone-shaped epiphyses of the middle phalanges of the hand Posterior vertebral hypoplasia Severe expressive language delay Cerebral white matter hypoplasia Toe syndactyly Dolichocephaly Thick eyebrow Decreased testicular size Scapular winging Short thorax Slender long bone Short 5th finger Hypoplastic pelvis Increased vertebral height Microphthalmia Telecanthus Thin vermilion border Small for gestational age Microcornea Hypoplasia of the maxilla Dental malocclusion Short palpebral fissure Fine hair Sparse scalp hair Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Hip dislocation Pes planus Mild global developmental delay Inguinal hernia Pneumonia Retrognathia Hepatosplenomegaly Anxiety Craniosynostosis Recurrent pneumonia Microretrognathia Scaphocephaly Ventriculomegaly Cerebellar atrophy Behavioral abnormality Micropenis Pectus excavatum Autism High forehead Attention deficit hyperactivity disorder Wide nose Hypoplasia of penis Tall stature Congenital hip dislocation Lissencephaly Large for gestational age Disproportionate tall stature Intrauterine growth retardation Abnormality of the skeletal system Spinal cord compression Large earlobe Narrow nasal tip Clonus Constipation Cerebellar hypoplasia Downturned corners of mouth Highly arched eyebrow Delayed myelination Apraxia Blue sclerae Hypertrichosis Exotropia Short thumb Abnormal vertebral morphology Oculomotor apraxia Ptosis Widely spaced teeth Bilateral ptosis Supernumerary nipple Narrow nasal bridge Spinal canal stenosis Syringomyelia Central hypotonia Delayed CNS myelination Chordee Tethered cord Lower limb hypertonia Hypertonia Bipolar affective disorder Hypoplasia of teeth Low-set, posteriorly rotated ears Cutaneous syndactyly of toes Cranial hyperostosis Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Ventricular septal defect Talipes equinovarus Absent speech Hypogonadism Autistic behavior Schizophrenia Short philtrum Tetralogy of Fallot Drooling Precocious puberty Unilateral renal agenesis 2-3 toe syndactyly Neurodevelopmental delay Gonadal dysgenesis Echolalia Abnormality of brain morphology Self-biting Severe receptive language delay Widely patent sagittal suture


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Skeletal dysplasia, related diseases and genetic alterations