Abnormal facial shape, and Camptodactyly of finger

Diseases related with Abnormal facial shape and Camptodactyly of finger

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


Top matches:

Low match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Low match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Low match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

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Other less relevant matches:

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Low match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Low match NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA


Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

Low match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Low match WEAVER SYNDROME


Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Low match DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME


Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Low match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Camptodactyly of finger

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Joint stiffness Uncommon - Between 30% and 50% cases
Round face Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Interphalangeal joint contracture of finger Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Downslanted palpebral fissures Flexion contracture Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Hypertelorism Arachnodactyly

Rare Symptoms - Less than 30% cases


Broad forehead Pes cavus Abnormality of the wrist Ulnar deviation of the hand Osteopenia Ulnar deviation of the hand or of fingers of the hand Seizures Macrocephaly Feeding difficulties Anteverted nares Hypertonia Long philtrum Talipes equinovarus Limitation of joint mobility Micromelia Abnormality of the fingernails Global developmental delay Large hands Bilateral sensorineural hearing impairment Growth delay Failure to thrive Cleft palate Ptosis Short neck Hypoplasia of the maxilla Telecanthus Inguinal hernia Macrotia Wide nasal bridge Short nose Hearing impairment Triangular face Narrow mouth Sensorineural hearing impairment Wide nose Thin nail Abnormality of the dentition Fine hair Abnormality of the metaphysis Broad thumb Tall stature Arrhythmia Hoarse voice Doll-like facies Metatarsal osteolysis Accelerated skeletal maturation Broad foot Peripheral neuropathy Sandal gap Deep philtrum Redundant skin Short stature Abnormally low-pitched voice Deep-set nails Hypoplastic toenails Metacarpal osteolysis Finger syndactyly Hypoplasia of penis Steatorrhea Lymphedema Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Wrist swelling Polycystic ovaries Increased susceptibility to fractures Urticaria Carpal osteolysis Abnormality of dental morphology Telangiectasia of the skin Joint hyperflexibility Abnormality of the musculature Osteomalacia Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Cryptorchidism Spasticity Retrognathia Feeding difficulties in infancy Delayed skeletal maturation Hyporeflexia Hypertensive retinopathy Ankle swelling Polyhydramnios Abnormal nasolacrimal system morphology Muscle flaccidity Elevated alkaline phosphatase Abnormality of nail color Hypertension Gait disturbance Renal insufficiency Proptosis Cachexia Osteolysis Arthralgia Rheumatoid arthritis Arthritis Proteinuria Retinopathy EMG abnormality Corneal opacity Abnormality of epiphysis morphology Pulmonic stenosis Stage 5 chronic kidney disease Downturned corners of mouth Nephropathy Abnormal hair quantity Slender long bone Hypogonadism External genital hypoplasia Diabetes mellitus Hypotelorism Ichthyosis Sensory neuropathy Cerebral calcification Primary amenorrhea Hypoplasia of dental enamel Abnormality of dental enamel Acanthosis nigricans Macular dystrophy Amelogenesis imperfecta Juvenile rheumatoid arthritis Abnormal eyebrow morphology Taurodontia Abnormal eyelid morphology Abnormal toenail morphology Azotemia High anterior hairline Pili torti Thin eyebrow Chronic diarrhea Leukonychia Gingival overgrowth Maternal diabetes Thickened skin Behavioral abnormality High palate Respiratory insufficiency Kyphosis Hyperhidrosis Sudden cardiac death Full cheeks Hypohidrosis Malignant hyperthermia Large face Cataract Microphthalmia Limited wrist movement Neonatal hypotonia Autistic behavior Coloboma Short philtrum Small for gestational age Severe global developmental delay Toe syndactyly Long fingers Central apnea Small face Cognitive impairment Aplasia/Hypoplasia involving the nose Abnormal oral frenulum morphology Optic atrophy Pectus excavatum Deeply set eye Ophthalmoplegia Abnormal electroretinogram Bilateral talipes equinovarus Deviation of finger Dimple chin Congenital finger flexion contractures Absent palmar crease Depressed nasal bridge Ulnar deviation of the wrist Malar flattening Clinodactyly Blepharophimosis Flat face High, narrow palate Depressed nasal ridge Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Lacrimal duct atresia Hand clenching Abnormality iris morphology Subcutaneous nodule Congenital muscular torticollis Multiple joint contractures Abnormality of the hip bone Aplasia/Hypoplasia of the radius Visual impairment Abnormality of the lower limb Abnormality of the upper limb Intestinal atresia Skin dimples Abnormality of the shoulder Gastric ulcer Abnormality of calvarial morphology Rocker bottom foot Abnormality of mesentery morphology Muscular hypotonia Brachydactyly Immunodeficiency Severe short stature Osteoporosis Coarse facial features Malabsorption Short palm Recurrent fractures Hemiplegia/hemiparesis Congenital contracture Bullet-shaped distal phalanx of the hallux Aplasia/Hypoplasia of the abdominal wall musculature Microcephaly Umbilical hernia Prominent nasal bridge Narrow chest Abdominal distention Vesicoureteral reflux Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Abdominal situs inversus Elbow flexion contracture Megacystis Skeletal muscle atrophy Myopathy Hernia Craniosynostosis Hip dislocation Arthrogryposis multiplex congenita Facial asymmetry Hip dysplasia Oligohydramnios Osteolysis involving tarsal bones



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