Frontal bossing, and Short distal phalanx of finger

Diseases related with Frontal bossing and Short distal phalanx of finger

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Other less relevant matches:

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Is also known as spondylometaphyseal dysplasia, japanese type

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

High 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

Top 5 symptoms//phenotypes associated to Frontal bossing and Short distal phalanx of finger

Symptoms // Phenotype % cases
Brachydactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Craniosynostosis Abnormality of the dentition Abnormality of the skeletal system Sparse and thin eyebrow Limb undergrowth Malar flattening Agenesis of permanent teeth Ectodermal dysplasia Hypodontia Delayed eruption of teeth Thick vermilion border Hypertension Global developmental delay High forehead Abnormal facial shape Proptosis Sparse hair

Rare Symptoms - Less than 30% cases

Short nose Joint hypermobility Anhidrotic ectodermal dysplasia Rod-cone dystrophy Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Generalized hypotonia Hypoplasia of the maxilla Severe short stature Midface retrusion Gingival overgrowth Short metacarpal Anterior hypopituitarism Anteverted nares Moderately short stature Narrow chest Hearing impairment Small nail Anemia Underdeveloped nasal alae Metaphyseal chondrodysplasia Feeding difficulties Downslanted palpebral fissures Abnormality of epiphysis morphology Absent nipple Hypohidrotic ectodermal dysplasia Heat intolerance Hypohidrosis Increased bone mineral density Prominent forehead Hyperhidrosis Hypotrichosis Smooth philtrum Everted lower lip vermilion Delayed speech and language development Low-set ears Anodontia Depressed nasal ridge Thin skin Microdontia Hoarse voice Anhidrosis Soft skin Sparse eyelashes Hypoplastic nipples Sparse body hair Oligodontia Skeletal dysplasia Aplasia/Hypoplasia of the eyebrow Type I diabetes mellitus Absent eyebrow Pectus excavatum Cutis laxa Recurrent pneumonia Bone marrow hypocellularity Protruding ear Pneumonia Hypermetropia Stage 5 chronic kidney disease Thin vermilion border Nephropathy Hepatic fibrosis Full cheeks Hip dysplasia Asthma Renal insufficiency Respiratory distress Hypoplastic-absent sebaceous glands Intellectual disability, severe Immunodeficiency Recurrent respiratory infections Fever Respiratory tract infection Otitis media with effusion Narrow nasal tip Mesomelic short stature Chronic kidney disease Dry skin Eczema Sparse scalp hair Triangular mouth Aplasia/Hypoplastia of the eccrine sweat glands Short chin Dysphonia Prominent supraorbital ridges Brittle hair Rhinitis Absent eyelashes Narrow naris Taurodontia Conical tooth Concave nail Abnormal oral mucosa morphology Cone/cone-rod dystrophy Blue sclerae Nephronophthisis Osteopetrosis Abnormality of the fingernails Osteolysis Sleep apnea Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Prominent occiput Abnormality of the vertebral column Abnormality of the clavicle Osteolytic defects of the phalanges of the hand Wormian bones Spondylolisthesis Ridged nail Small face Low back pain Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Snoring Spondylolysis Osteolytic defects of the distal phalanges of the hand Persistent open anterior fontanelle Narrow palate Abnormality of the nail Cutaneous finger syndactyly Osteoporosis Elevated serum creatinine Sagittal craniosynostosis Broad distal phalanx of finger Pes valgus Broad phalanx of the toes Scoliosis Pain Cognitive impairment Hepatomegaly Hydrocephalus Splenomegaly Kyphosis Brachycephaly Short toe Hepatosplenomegaly Apnea Hyperlordosis Carious teeth Recurrent fractures Postural instability Prominent nose Growth hormone deficiency Abnormality of the skin Depressed nasal tip Abnormality of the face Abnormal vertebral morphology Bone pain Generalized osteosclerosis Macrotia Thickened calvaria Bowing of the legs Dilatation Platyspondyly Waddling gait Abnormality of the metaphysis Bowing of the long bones Coxa vara Genu varum Hypercalcemia Short middle phalanx of finger Mild short stature Femoral bowing Straight clavicles Irregular vertebral endplates Spondylometaphyseal dysplasia Metaphyseal cupping Diaphyseal thickening Abnormality of bone mineral density Irregular acetabular roof Metaphyseal cupping of metacarpals Broad middle phalanx of finger Enlargement of the proximal femoral epiphysis Metaphyseal cupping of proximal phalanges Proximal femoral metaphyseal abnormality Aplasia/Hypoplasia of the distal phalanx of the hallux Type E brachydactyly Seizures Anisopoikilocytosis Growth delay Talipes equinovarus Recurrent infections Osteopenia Telecanthus Small for gestational age Talipes Hypopigmentation of the skin Hypopigmented skin patches Profound global developmental delay Spotty hypopigmentation Hyperkeratosis Multiple impacted teeth Palmoplantar hyperkeratosis Ataxia Nystagmus Cataract Joint hyperflexibility Round face Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification Upper limb asymmetry Distal tibial bowing Epicanthus Mesomelia Umbilical hernia Renal cyst Horseshoe kidney Congenital blindness Hypertelorism Sensorineural hearing impairment Cryptorchidism Wide nasal bridge Long philtrum Hernia Clinodactyly Micropenis Thin upper lip vermilion Nyctalopia Conductive hearing impairment Cleft lip Camptodactyly Wide mouth Dental malocclusion Otitis media Overgrowth Broad thumb Dental crowding Short phalanx of finger Chronic otitis media Retinal degeneration Intellectual disability, moderate Hypoplasia of the corpus callosum Highly arched eyebrow Behavioral abnormality Cerebellar hypoplasia Posteriorly rotated ears Hyperactivity Autism Mandibular prognathia Anxiety Aggressive behavior Autistic behavior Broad forehead Thick eyebrow Sleep disturbance Microcephaly Cerebellar vermis hypoplasia Widely spaced teeth Schizophrenia Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay Long nose Facial hypotonia Ventricular septal defect Short neck Blindness Abnormal pelvis bone ossification


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