Abnormal facial shape, and Short palm

Diseases related with Abnormal facial shape and Short palm

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Short palm that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Medium match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

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Other less relevant matches:

Medium match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Medium match BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME


Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

Medium match ACHONDROGENESIS TYPE 1A


Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Medium match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Short palm

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Round face Uncommon - Between 30% and 50% cases
Short foot Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Short palm. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopia Severe short stature Joint stiffness Short phalanx of finger Anteverted nares Global developmental delay

Rare Symptoms - Less than 30% cases


Delayed skeletal maturation Spondyloepiphyseal dysplasia Multiple epiphyseal dysplasia Hypertelorism Short nose Long philtrum Dilatation Recurrent fractures Strabismus Abnormality of cardiovascular system morphology Micromelia Short metacarpal Small hand Epiphyseal dysplasia Skeletal dysplasia Delayed speech and language development Ovoid vertebral bodies Bulbous nose Macrocephaly Absent speech Flat face Cone-shaped epiphysis Conductive hearing impairment Hearing impairment Micropenis Coarse facial features Narrow mouth Genu valgum Frontal bossing Hyporeflexia Dysarthria Tremor Hypoplasia of the corpus callosum Intellectual disability, severe Cerebellar atrophy Kyphosis Cerebellar hypoplasia Inability to walk Cognitive impairment Short neck Tapered finger Abnormal pyramidal sign Dysmetria Hirsutism Gait ataxia Sensorineural hearing impairment Polyhydramnios Cystic hygroma Umbilical hernia Narrow chest Polyphagia Abdominal distention Hydrops fetalis Short thorax Narrow nose Thickened nuchal skin fold Full cheeks Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Femoral hernia Abnormal enchondral ossification Multiple rib fractures Brain atrophy Ataxia Microretrognathia Prominent nasal bridge Brachycephaly Intention tremor Internal notch of the femoral head Macrotia Short long bone Deep philtrum Decreased nerve conduction velocity Abnormal eyebrow morphology Abnormality of femur morphology Constrictive median neuropathy Fifth metacarpal with ulnar notch Microcephaly Hoarse voice Nystagmus Muscular hypotonia Autism Low-set ears High palate Epicanthus Obesity Clinodactyly of the 5th finger Narrow palpebral fissure Abnormality of epiphysis morphology Heterotopia Thoracic kyphosis Intellectual disability, progressive Autistic behavior Lissencephaly EEG abnormality Dysdiadochokinesis Global brain atrophy Cortical dysplasia Thoracic scoliosis Abnormality of the neck Thickened skin Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Growth delay Respiratory tract infection Micrognathia Thick vermilion border Thick lower lip vermilion Long eyelashes Truncal ataxia Microdontia Herniation of intervertebral nuclei Bicuspid aortic valve Abnormal heart morphology Abdominal pain Pulmonic stenosis Specific learning disability Decreased body weight Finger clinodactyly Aortic regurgitation Cutaneous syndactyly Increased susceptibility to fractures Clinodactyly Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Patent ductus arteriosus Syndactyly Arthralgia Cataract Cryptorchidism Ventriculomegaly Wide mouth Polymicrogyria Facial asymmetry Broad thumb Abnormality of the nail Bilateral single transverse palmar creases Symphalangism affecting the phalanges of the hand Coxa valga Renal insufficiency Anonychia Retinal dysplasia Retinal thinning Asteroid hyalosis Failure to thrive Pain Hypertension Ventricular septal defect Cardiomyopathy Gait disturbance Limitation of joint mobility Intervertebral space narrowing Widely spaced teeth Arachnodactyly Thick eyebrow Delayed eruption of teeth Hypoplasia of the maxilla Seizures Mitral valve prolapse Hypertrichosis Hypoplasia of dental enamel Oligodontia Osteopenia Reduced number of teeth Aortic aneurysm Agenesis of permanent teeth Amelogenesis imperfecta Large forehead Selective tooth agenesis Thoracic aortic aneurysm Abdominal aortic aneurysm Narrow vertebral interpedicular distance Platyspondyly Mandibular prognathia Waddling gait Generalized joint laxity Hip dysplasia Osteoarthritis Joint dislocation Disproportionate short-limb short stature Genu varum Mild short stature Short femoral neck Irregular vertebral endplates Delayed epiphyseal ossification Avascular necrosis of the capital femoral epiphysis Abnormality of the dentition Irregular epiphyses Small epiphyses Broad femoral neck Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement Scoliosis Misalignment of teeth



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Brachycephaly, related diseases and genetic alterations Hepatomegaly and Recurrent fractures, related diseases and genetic alterations Hepatomegaly and Hyperglycemia, related diseases and genetic alterations Abnormal facial shape and Cerebellar hypoplasia, related diseases and genetic alterations Scoliosis and Microtia, related diseases and genetic alterations Ataxia and Abnormality of skin pigmentation, related diseases and genetic alterations

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