Abnormal facial shape, and Short foot

Diseases related with Abnormal facial shape and Short foot

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


Top matches:

Medium match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Medium match MENTAL RETARDATION, X-LINKED 91; MRX91


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

Medium match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

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Other less relevant matches:

Medium match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Medium match ACHONDROGENESIS TYPE 1B


Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

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 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Small hand Common - Between 50% and 80% cases
Short nose Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Severe short stature Micrognathia Brachydactyly Absent speech Flat face Round face Intellectual disability Short palm Generalized hypotonia Long philtrum Frontal bossing

Rare Symptoms - Less than 30% cases


Femoral hernia Delayed speech and language development Bulbous nose Macrocephaly Delayed skeletal maturation Intrauterine growth retardation Short metacarpal Short neck Strabismus Abnormality of cardiovascular system morphology Cerebellar hypoplasia Polyhydramnios Narrow mouth Narrow chest Micromelia Hydrops fetalis Short thorax Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Umbilical hernia Abnormal enchondral ossification Muscular hypotonia Talipes equinovarus Seizures Hearing impairment Atrial septal defect Intellectual disability, mild Obesity Short 5th finger Skeletal dysplasia Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Thick vermilion border Respiratory tract infection Joint stiffness Cortical dysplasia Thick lower lip vermilion Long eyelashes Thickened skin Abnormality of epiphysis morphology Thoracic scoliosis Wide nasal bridge Global brain atrophy Abnormal pyramidal sign Cerebellar atrophy Kyphosis Hyporeflexia Micropenis Gait ataxia Coarse facial features Dysmetria Dysdiadochokinesis Hirsutism Inability to walk Brain atrophy Intention tremor Heterotopia Truncal ataxia Intellectual disability, progressive Lissencephaly Hoarse voice Short phalanx of finger Low-set, posteriorly rotated ears Posteriorly rotated ears Hyperactivity Autism Gastroesophageal reflux Thin upper lip vermilion Anxiety Hyperlordosis Behavioral abnormality Autistic behavior Wide mouth Attention deficit hyperactivity disorder Broad forehead Hypermetropia Small nail Broad-based gait Constipation Vomiting Hypoplasia of the corpus callosum Ovoid vertebral bodies Narrow palpebral fissure Short long bone Deep philtrum Decreased nerve conduction velocity Cone-shaped epiphysis Abnormal eyebrow morphology Abnormality of femur morphology Fever Constrictive median neuropathy Fifth metacarpal with ulnar notch Internal notch of the femoral head Pain Low-set ears Feeding difficulties Myopia Intellectual disability, severe Sensorineural hearing impairment Tremor Premature ovarian insufficiency Thin vermilion border Severe global developmental delay Decreased testicular size Specific learning disability Gynecomastia Hypergonadotropic hypogonadism High pitched voice Neonatal hypotonia Truncal obesity Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Small for gestational age Deeply set eye Epicanthus Carpal synostosis Proptosis High forehead Genu valgum Macrodontia Short toe Joint dislocation Patellar dislocation Hypogonadism Coronal craniosynostosis Cubitus valgus Failure to thrive Cryptorchidism Severe muscular hypotonia Low posterior hairline Clinodactyly High palate Dysarthria Metaphyseal sclerosis Prominent nose Sloping forehead Mild short stature Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Malar flattening Agenesis of corpus callosum Recurrent fractures Abdominal distention Multiple rib fractures Ataxia Cleft palate Cognitive impairment Craniosynostosis Midface retrusion Unilateral ulnar hypoplasia Fibular hypoplasia Postaxial oligodactyly Aplasia/Hypoplasia of the fibula Abnormality of the ribs Aplasia/Hypoplasia of the ulna Lower limb asymmetry Disproportionate short stature Bilateral talipes equinovarus Pneumonia Hemangioma Toe syndactyly Prominent forehead Microcephaly Spasticity Cardiomyopathy Obsessive-compulsive behavior



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Lymphadenopathy, related diseases and genetic alterations Tremor and Paralysis, related diseases and genetic alterations Epicanthus and Ventriculomegaly, related diseases and genetic alterations Peripheral neuropathy and Atrial septal defect, related diseases and genetic alterations Strabismus and Short palpebral fissure, related diseases and genetic alterations

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