Frontal bossing, and Clinodactyly

Diseases related with Frontal bossing and Clinodactyly

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


Top matches:

Medium match THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Medium match SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME


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

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

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Other less relevant matches:

Medium match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


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

Medium match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Medium match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Medium match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Medium match 17P13.3 MICRODUPLICATION 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

Medium 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

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


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

Top 5 symptoms//phenotypes associated to Frontal bossing and Clinodactyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Triangular face Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short neck Macrocephaly Delayed skeletal maturation Motor delay Pectus excavatum Growth delay Failure to thrive Prominent forehead Abnormal facial shape Pointed chin Dolichocephaly Long philtrum Malar flattening Downslanted palpebral fissures Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases


Decreased body weight High palate Overgrowth Inguinal hernia Small hand Retrognathia Hip dislocation Mandibular prognathia Intellectual disability Hypospadias Narrow mouth Flexion contracture Relative macrocephaly Delayed speech and language development Hypertelorism Severe short stature Abnormality of the skeletal system Anteverted nares Midface retrusion Hyperlordosis Small for gestational age Short thorax Slender long bone Increased vertebral height Deeply set eye Pes planus Finger clinodactyly Cataract Micrognathia Wide nasal bridge Disproportionate tall stature Hypoplasia of penis Large for gestational age Lissencephaly Depressed nasal bridge Attention deficit hyperactivity disorder Intrauterine growth retardation Wide nose Congenital hip dislocation Tall stature Cerebellar atrophy High forehead Microcephaly Subcapsular cataract Hepatocellular carcinoma Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Thoracic kyphoscoliosis Fulminant hepatic failure Muscular hypotonia Autism Ventriculomegaly Hypoplasia of the corpus callosum Thick eyebrow Behavioral abnormality Short nose Hernia Hyperactivity Micropenis Joint hypermobility Toe syndactyly Decreased testicular size Spinal cord compression Dental crowding Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Mild global developmental delay Sparse scalp hair Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly Large fontanelles Fine hair Short ribs Microphthalmia Coxa vara Scapular winging Spina bifida occulta Short 5th finger Hypoplastic pelvis Epicanthus Myopia Abnormality of the dentition Syndactyly Brachycephaly Short palpebral fissure Telecanthus Lipodystrophy Thin vermilion border Short foot Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Dental malocclusion Underdeveloped nasal alae Premature graying of hair Patent ductus arteriosus Elbow flexion contracture Enlarged joints Osteoarthritis Abnormality of epiphysis morphology Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Seizures Genu valgum Pneumonia Hepatosplenomegaly Anxiety Aggressive behavior Craniosynostosis Broad nasal tip Stereotypy Brain atrophy Finger syndactyly Microretrognathia Split hand Protruding ear Hip dysplasia Hearing impairment Scoliosis Sensorineural hearing impairment Synophrys Tapered finger Low anterior hairline Pectus carinatum Abnormality of the nail Split foot Moderate hearing impairment Hitchhiker thumb Aplasia of the 2nd finger Obesity Agenesis of corpus callosum Polyhydramnios Recurrent pneumonia Scaphocephaly Single transverse palmar crease Neoplasm Feeding difficulties Feeding difficulties in infancy Ambiguous genitalia Pterygium Melanocytic nevus Unilateral cryptorchidism Penoscrotal hypospadias Pain Interstitial pneumonitis Skeletal muscle atrophy Kyphosis Abdominal pain Kyphoscoliosis Carcinoma Prominent nasal bridge Hepatic failure Bulbous nose Cryptorchidism Chronic lung disease Hepatomegaly Camptodactyly Diarrhea Splenomegaly Posteriorly rotated ears Diabetes mellitus Respiratory failure Proptosis Hypothyroidism Autoimmunity Prominent occiput Malabsorption Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology 2-4 toe cutaneous syndactyly



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